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Wyszukujesz frazę ""Canham, Natalie"" wg kryterium: Autor


Tytuł :
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Autorzy :
van der Sluijs, Pleuntje J.
Jansen, Sandra
Vergano, Samantha A.
Adachi-Fukuda, Miho
Alanay, Yasemin
AlKindy, Adila
Baban, Anwar
Bayat, Allan
Beck-Wödl, Stefanie
Berry, Katherine
Bijlsma, Emilia K.
Bok, Levinus A.
Brouwer, Alwin F. J.
van der Burgt, Ineke
Campeau, Philippe M.
Canham, NatalieAff15, Aff16
Chrzanowska, Krystyna
Chu, Yoyo W. Y.
Chung, Brain H. Y.
Dahan, Karin
De Rademaeker, Marjan
Destree, Anne
Dudding-Byth, Tracy
Earl, Rachel
Elcioglu, Nursel
Elias, Ellen R.
Fagerberg, Christina
Gardham, Alice
Gener, Blanca
Gerkes, Erica H.
Grasshoff, Ute
van Haeringen, Arie
Heitink, Karin R.
Herkert, Johanna C.
den Hollander, Nicolette S.
Horn, Denise
Hunt, David
Kant, Sarina G.
Kato, Mitsuhiro
Kayserili, Hülya
Kersseboom, Rogier
Kilic, Esra
Krajewska-Walasek, Malgorzata
Lammers, Kylin
Laulund, Lone W.
Lederer, Damien
Lees, Melissa
López-González, Vanesa
Maas, Saskia
Mancini, Grazia M. S.
Marcelis, Carlo
Martinez, Francisco
Maystadt, Isabelle
McGuire, Marianne
McKee, Shane
Mehta, Sarju
Metcalfe, Kay
Milunsky, Jeff
Mizuno, Seiji
Moeschler, John B.
Netzer, Christian
Ockeloen, Charlotte W.
Oehl-Jaschkowitz, Barbara
Okamoto, Nobuhiko
Olminkhof, Sharon N. M.
Orellana, Carmen
Pasquier, Laurent
Pottinger, Caroline
Riehmer, Vera
Robertson, Stephen P.
Roifman, MaianAff55, Aff56
Rooryck, Caroline
Ropers, Fabienne G.
Rosello, Monica
Ruivenkamp, Claudia A. L.
Sagiroglu, Mahmut S.
Sallevelt, Suzanne C. E. H.
Sanchis Calvo, Amparo
Simsek-Kiper, Pelin O.
Soares, Gabriela
Solaeche, Lucia
Sonmez, Fatma Mujgan
Splitt, Miranda
Steenbeek, Duco
Stegmann, Alexander P. A.
Stumpel, Constance T. R. M.
Tanabe, Saori
Uctepe, Eyyup
Utine, G. Eda
Veenstra-Knol, Hermine E.
Venkateswaran, Sunita
Vilain, CathelineAff70, Aff71
Vincent-Delorme, Catherine
Vulto-van Silfhout, Anneke T.
Wheeler, Patricia
Wilson, Golder N.
Wilson, Louise C.
Wollnik, Bernd
Kosho, Tomoki
Wieczorek, Dagmar
Eichler, Evan
Pfundt, Rolph
de Vries, Bert B. A.
Clayton-Smith, Jill
Santen, Gijs W. E.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(6):1295-1307
Czasopismo naukowe
Tytuł :
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
Autorzy :
van der Sluijs, Pleuntje J.
Jansen, Sandra
Vergano, Samantha A.
Adachi-Fukuda, Miho
Alanay, Yasemin
AlKindy, Adila
Baban, Anwar
Bayat, Allan
Beck-Wödl, Stefanie
Berry, Katherine
Bijlsma, Emilia K.
Bok, Levinus A.
Brouwer, Alwin F. J.
van der Burgt, Ineke
Campeau, Philippe M.
Canham, NatalieAff15, Aff16
Chrzanowska, Krystyna
Chu, Yoyo W. Y.
Chung, Brain H. Y.
Dahan, Karin
De Rademaeker, Marjan
Destree, Anne
Dudding-Byth, Tracy
Earl, Rachel
Elcioglu, Nursel
Elias, Ellen R.
Fagerberg, Christina
Gardham, Alice
Gener, Blanca
Gerkes, Erica H.
Grasshoff, Ute
van Haeringen, Arie
Heitink, Karin R.
Herkert, Johanna C.
den Hollander, Nicolette S.
Horn, Denise
Hunt, David
Kant, Sarina G.
Kato, Mitsuhiro
Kayserili, Hülya
Kersseboom, Rogier
Kilic, Esra
Krajewska-Walasek, Malgorzata
Lammers, Kylin
Laulund, Lone W.
Lederer, Damien
Lees, Melissa
López-González, Vanesa
Maas, Saskia
Mancini, Grazia M. S.
Marcelis, Carlo
Martinez, Francisco
Maystadt, Isabelle
McGuire, Marianne
McKee, Shane
Mehta, Sarju
Metcalfe, Kay
Milunsky, Jeff
Mizuno, Seiji
Moeschler, John B.
Netzer, Christian
Ockeloen, Charlotte W.
Oehl-Jaschkowitz, Barbara
Okamoto, Nobuhiko
Olminkhof, Sharon N. M.
Orellana, Carmen
Pasquier, Laurent
Pottinger, Caroline
Riehmer, Vera
Robertson, Stephen P.
Roifman, MaianAff55, Aff56
Rooryck, Caroline
Ropers, Fabienne G.
Rosello, Monica
Ruivenkamp, Claudia A. L.
Sagiroglu, Mahmut S.
Sallevelt, Suzanne C. E. H.
Calvo, Amparo Sanchis
Simsek-Kiper, Pelin O.
Soares, Gabriela
Solaeche, Lucia
Sonmez, Fatma Mujgan
Splitt, Miranda
Steenbeek, Duco
Stegmann, Alexander P. A.
Stumpel, Constance T. R. M.
Tanabe, Saori
Uctepe, Eyyup
Utine, G. Eda
Veenstra-Knol, Hermine E.
Venkateswaran, Sunita
Vilain, CathelineAff70, Aff71
Vincent-Delorme, Catherine
Vulto-van Silfhout, Anneke T.
Wheeler, Patricia
Wilson, Golder N.
Wilson, Louise C.
Wollnik, Bernd
Kosho, Tomoki
Wieczorek, Dagmar
Eichler, Evan
Pfundt, Rolph
de Vries, Bert B. A.
Clayton-Smith, Jill
Santen, Gijs W. E.
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(9):2160-2161
Czasopismo naukowe
Tytuł :
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Autorzy :
Zawerton, Ash
Mignot, Cyril
Sigafoos, Ashley
Blackburn, Patrick
Haseeb, Abdul
McWalter, Kirsty
Ichikawa, Shoji
Nava, Caroline
Keren, Boris
Charles, Perrine
Marey, Isabelle
Tabet, Anne-Claude
Levy, Jonathan
Perrin, Laurence
Hartmann, Andreas
Lesca, Gaetan
Schluth-Bolard, Caroline
Monin, Pauline
Dupuis-Girod, Sophie
Guillen Sacoto, Maria
Schnur, Rhonda
Zhu, Zehua
POISSON, Alice
El Chehadeh, Salima
Alembik, Yves
Bruel, Ange-Line
Lehalle, Daphne
Nambot, Sophie
Moutton, Sébastien
Odent, Sylvie
Jaillard, Sylvie
Dubourg, Christèle
Hilhorst-Hofstee, Yvonne
Barbaro-Dieber, Tina
Ortega, Lucia
Bhoj, Elizabeth
Masser-Frye, Diane
Bird, Lynne
Lindstrom, Kristin
Ramsey, Keri
Narayanan, Vinodh
Fassi, Emily
Willing, Marcia
Cole, Trevor
Salter, Claire
Akilapa, Rhoda
Vandersteen, Anthony
Canham, Natalie
Rump, Patrick
Gerkes, Erica
Klein Wassink-Ruiter, Jolien
Bijlsma, Emilia
Hoffer, Mariëtte
Vargas, Marcelo
Wojcik, Antonina
Cherik, Florian
Francannet, Christine
Rosenfeld, Jill
Machol, Keren
Scott, Daryl
Bacino, Carlos
Wang, Xia
Clark, Gary
Bertoli, Marta
Zwolinski, Simon
Thomas, Rhys
Akay, Ela
Chang, Richard
Bressi, Rebekah
Sanchez Russo, Rossana
Srour, Myriam
Russell, Laura
Goyette, Anne-Marie
Dupuis, Lucie
Mendoza-Londono, Roberto
Karimov, Catherine
Joseph, Maries
Nizon, Mathilde
Cogné, Benjamin
Kuechler, Alma
Piton, Amélie
Klee, Eric
Lefebvre, Véronique
Clark, Karl
Depienne, Christel
Pokaż więcej
Temat :
epilepsy
developmental delay
[SDV.GEN]Life Sciences [q-bio]/Genetics
autism
missense variants
intellectual disability
Źródło :
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.524-537. ⟨10.1038/s41436-019-0657-0⟩
Tytuł :
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Autorzy :
O’Donnell-Luria, Anne
Pais, Lynn
Faundes, Víctor
Wood, Jordan
Sveden, Abigail
Luria, Victor
Abou Jamra, Rami
Accogli, Andrea
Amburgey, Kimberly
Anderlid, Britt Marie
Azzarello-Burri, Silvia
Basinger, Alice
Bianchini, Claudia
Bird, Lynne
Buchert, Rebecca
Carré, Wilfrid
Ceulemans, Sophia
Charles, Perrine
Culliton, Lisa
Currò, Aurora
Demurger, Florence
Dowling, James
Duban-Bedu, Bénédicte
Dubourg, Christèle
Eiset, Saga Elise
Escobar, Luis
Ferrarini, Alessandra
Haack, Tobias
Hashim, Mona
Heide, Solveig
Helbig, Katherine
Helbig, Ingo
Heredia, Raul
Héron, Delphine
Isidor, Bertrand
Jonasson, Amy
Joset, Pascal
Keren, Boris
Kok, Fernando
Kroes, Hester
Lavillaureix, Alinoë
Lu, Xin
Maas, Saskia
Maegawa, Gustavo H.B.
Marcelis, Carlo L.M.
Mark, Paul
Masruha, Marcelo
McLaughlin, Heather
McWalter, Kirsty
Melchinger, Esther
Mercimek-Andrews, Saadet
Nava, Caroline
Pendziwiat, Manuela
Person, Richard
Ramelli, Gian Paolo
Ramos, Luiza L.P.
Rauch, Anita
Reavey, Caitlin
Renieri, Alessandra
Rieß, Angelika
Sanchez-Valle, Amarilis
Sattar, Shifteh
Saunders, Carol
Schwarz, Niklas
Smol, Thomas
Srour, Myriam
Steindl, Katharina
Syrbe, Steffen
Taylor, Jenny
Telegrafi, Aida
Thiffault, Isabelle
Trauner, Doris
van der Linden, Helio
van Koningsbruggen, Silvana
Villard, Laurent
Vogel, Ida
Weber, Yvonne
Wentzensen, Ingrid
Widjaja, Elysa
Zak, Jaroslav
Baxter, Samantha
Rodan, Lance
McRae, Jeremy
Clayton, Stephen
Fitzgerald, Tomas
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy
King, Daniel
Krishnappa, Netravathi
Mason, Laura
Singh, Tarjinder
Tivey, Adrian
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A. Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D’Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, V.
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Morton, Jenny
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Newbury-Ecob, Ruth
Norman, Andrew
O’Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Price, Sue
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Rankin, Julia
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I. Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellåker, Chris
Parker, Michael
Firth, Helen
Wright, Caroline
Fitzpatrick, David
Barrett, Jeffrey
Hurles, Matthew
Pokaż więcej
Temat :
global developmental delay
epileptic encephalopathy
epilepsy
autism
KMT2E
H3K4 methylation
neurodevelopmental disorder
intellectual disability
[SDV]Life Sciences [q-bio]
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
Tytuł :
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
Autorzy :
Gorman, Kathleen M.
Meyer, Esther
Grozeva, Detelina
Spinelli, Egidio
McTague, Amy
Sanchis-Juan, Alba
Carss, Keren J.
Bryant, Emily
Reich, Adi
Schneider, Amy L.
Pressler, Ronit M.
Simpson, Michael A.
Debelle, Geoff D.
Wassmer, Evangeline
Morton, Jenny
Sieciechowicz, Diana
Jan-Kamsteeg, Eric
Paciorkowski, Alex R.
King, Mary D.
Cross, J. Helen
Poduri, Annapurna
Mefford, Heather C.
Scheffer, Ingrid E.
Haack, Tobias B.
McCullagh, Gary
Millichap, John J.
Carvill, Gemma L.
Clayton-Smith, Jill
Maher, Eamonn R.
Raymond, F. Lucy
Kurian, Manju A.
McRae, Jeremy F.
Clayton, Stephen
Fitzgerald, Tomas W.
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M.
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D.
King, Daniel
Krishnappa, Netravathi
Mason, Laura E.
Singh, Tarjinder
Tivey, Adrian R.
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A. Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J.
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N.
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D?Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, V. K. Ajith
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally A.
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic J.
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Newbury-Ecob, Ruth
Norman, Andrew
O'Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Parker, Michael J.
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela T.
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Price, Sue
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Rankin, Julia
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I. Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellåker, Chris
Parker, Michael
Firth, Helen V.
Wright, Caroline F.
FitzPatrick, David R.
Barrett, Jeffrey C.
Hurles, Matthew E.
Al Turki, Saeed
Anderson, Carl
Anney, Richard
Antony, Dinu
Artigas, Maria Soler
Ayub, Muhammad
Balasubramaniam, Senduran
Barroso, Inês
Beales, Phil
Bentham, Jamie
Bhattacharya, Shoumo
Birney, Ewan
Blackwood, Douglas
Bobrow, Martin
Bochukova, Elena
Bolton, Patrick
Bounds, Rebecca
Boustred, Chris
Breen, Gerome
Calissano, Mattia
Carss, Keren
Chatterjee, Krishna
Chen, Lu
Ciampi, Antonio
Cirak, Sebhattin
Clapham, Peter
Clement, Gail
Coates, Guy
Collier, David
Cosgrove, Catherine
Cox, Tony
Craddock, Nick
Crooks, Lucy
Curran, Sarah
Curtis, David
Daly, Allan
Day-Williams, Aaron
Day, Ian N.M.
Down, Thomas
Du, Yuanping
Dunham, Ian
Edkins, Sarah
Ellis, Peter
Evans, David
Faroogi, Sadaf
Fatemifar, Ghazaleh
Fitzpatrick, David R.
Flicek, Paul
Flyod, James
Foley, A. Reghan
Franklin, Christopher S.
Futema, Marta
Gallagher, Louise
Geihs, Matthias
Geschwind, Daniel
Griffin, Heather
Guo, Xueqin
Guo, Xiaosen
Gurling, Hugh
Hart, Deborah
Hendricks, Audrey
Holmans, Peter
Howie, Bryan
Huang, Liren
Hubbard, Tim
Humphries, Steve E.
Hysi, Pirro
Jackson, David K.
Jamshidi, Yalda
Jing, Tian
Joyce, Chris
Kaye, Jane
Keane, Thomas
Keogh, Julia
Kemp, John
Kennedy, Karen
Kolb-Kokocinski, Anja
Lachance, Genevieve
Langford, Cordelia
Lawson, Daniel
Lee, Irene
Lek, Monkol
Liang, Jieqin
Lin, Hong
Li, Rui
Li, Yingrui
Liu, Ryan
Lönnqvist, Jouko
Lopes, Margarida
Iotchkova, Valentina
MacArthur, Daniel
Marchini, Jonathan
Maslen, John
Massimo, Mangino
Mathieson, Iain
Marenne, Gaëlle
McGuffin, Peter
McIntosh, Andrew
McKechanie, Andrew G.
McQuillin, Andrew
Metrustry, Sarah
Mitchison, Hannah
Moayyeri, Alireza
Morris, James
Muntoni, Francesco
Northstone, Kate
O'Donovan, Michael
Onoufriadis, Alexandros
O'Rahilly, Stephen
Oualkacha, Karim
Owen, Michael J.
Palotie, Aarno
Panoutsopoulou, Kalliope
Parker, Victoria
Parr, Jeremy R.
Paternoster, Lavinia
Paunio, Tiina
Payne, Felicity
Pietilainen, Olli
Plagnol, Vincent
Quaye, Lydia
Quail, Michael A.
Rehnström, Karola
Ring, Susan
Ritchie, Graham R.S.
Roberts, Nicola
Savage, David B.
Scambler, Peter
Schiffels, Stephen
Schmidts, Miriam
Schoenmakers, Nadia
Semple, Robert K.
Serra, Eva
Sharp, Sally I.
Shin, So-Youn
Skuse, David
Small, Kerrin
Southam, Lorraine
Spasic-Boskovic, Olivera
St Clair, David
Stalker, Jim
Stevens, Elizabeth
St Pourcian, Beate
Sun, Jianping
Suvisaari, Jaana
Tachmazidou, Ionna
Tobin, Martin D.
Valdes, Ana
Van Kogelenberg, Margriet
Visscher, Peter M.
Wain, Louise V.
Walters, James T.R.
Wang, Guangbiao
Wang, Jun
Wang, Yu
Ward, Kirsten
Wheeler, Elanor
Whyte, Tamieka
Williams, Hywel
Williamson, Kathleen A.
Wilson, Crispian
Wong, Kim
Xu, ChangJiang
Yang, Jian
Zhang, Fend
Zhang, Pingbo
Aitman, Timothy
Alachkar, Hana
Ali, Sonia
Allen, Louise
Allsup, David
Ambegaonkar, Gautum
Anderson, Julie
Antrobus, Richard
Arno, Gavin
Arumugakani, Gururaj
Ashford, Sofie
Astle, William
Attwood, Antony
Austin, Steve
Bacchelli, Chiara
Bakchoul, Tamam
Bariana, Tadbir K.
Baxendale, Helen
Bennett, David
Bethune, Claire
Bibi, Shahnaz
Bleda, Marta
Boggard, Harm
Bolton-Maggs, Paula
Booth, Claire
Bradley, John R.
Brady, Angie
Brown, Matthew
Browning, Michael
Bryson, Christine
Burns, Siobhan
Calleja, Paul
Carmichael, Jenny
Caulfield, Mark
Chalmers, Elizabeth
Chandra, Anita
Chinnery, Patrick
Chitre, Manali
Church, Colin
Clement, Emma
Clements-Brod, Naomi
Coghlan, Gerry
Collins, Peter
Cooper, Nichola
Creaser-Myers, Amanda
DaCosta, Rosa
Daugherty, Louise
Davies, Sophie
Davis, John
De Vries, Minka
Deegan, Patrick
Deevi, Sri V.V.
Devlin, Lisa
Dewhurst, Eleanor
Doffinger, Rainer
Dormand, Natalie
Drewe, Elizabeth
Edgar, David
Egner, William
Erber, Wendy N.
Erwood, Marie
Everington, Tamara
Favier, Remi
Firth, Helen
Fletcher, Debra
Fox, James C.
Frary, Amy
Freson, Kathleen
Furie, Bruce
Furnell, Abigail
Gale, Daniel
Gardham, Alice
Gattens, Michael
Ghataorhe, Pavandeep K.
Ghurye, Rohit
Gibbs, Simon
Gilmour, Kimberley
Gissen, Paul
Goddard, Sarah
Gomez, Keith
Gordins, Pavel
Gräf, Stefan
Greene, Daniel
Greenhalgh, Alan
Greinacher, Andreas
Grigoriadou, Sofia
Hackett, Scott
Hadinnapola, Charaka
Hague, Rosie
Haimel, Matthias
Halmagyi, Csaba
Hammerton, Tracey
Hart, Daniel
Hayman, Grant
Heemskerk, Johan W.M.
Henderson, Robert
Hensiek, Anke
Henskens, Yvonne
Herwadkar, Archana
Hu, Fengyuan
Huissoon, Aarnoud
Humbert, Marc
James, Roger
Jolles, Stephen
Kazmi, Rashid
Keeling, David
Kelleher, Peter
Kelly, Anne M.
Kennedy, Fiona
Kiely, David
Kingston, Nathalie
Koziell, Ania
Krishnakumar, Deepa
Kuijpers, Taco W.
Kumararatne, Dinakantha
Kurian, Manju
Laffan, Michael A.
Lambert, Michele P.
Allen, Hana Lango
Lawrie, Allan
Lear, Sara
Lentaigne, Claire
Liesner, Ri
Linger, Rachel
Longhurst, Hilary
Lorenzo, Lorena
Machado, Rajiv
Mackenzie, Rob
MacLaren, Robert
Maher, Eamonn
Maimaris, Jesmeen
Mangles, Sarah
Manson, Ania
Mapeta, Rutendo
Markus, Hugh S.
Martin, Jennifer
Masati, Larahmie
Mathias, Mary
Matser, Vera
Maw, Anna
McDermott, Elizabeth
McJannet, Coleen
Meacham, Stuart
Meehan, Sharon
Megy, Karyn
Michaelides, Michel
Millar, Carolyn M.
Moledina, Shahin
Moore, Anthony
Morrell, Nicholas
Mumford, Andrew
Murng, Sai
Murphy, Elaine
Nejentsev, Sergey
Noorani, Sadia
Nurden, Paquita
Oksenhendler, Eric
Ouwehand, Willem H.
Papadia, Sofia
Parker, Alasdair
Pasi, John
Patch, Chris
Payne, Jeanette
Peacock, Andrew
Peerlinck, Kathelijne
Penkett, Christopher J.
Pepke-Zaba, Joanna
Perry, David J.
Pollock, Val
Polwarth, Gary
Ponsford, Mark
Qasim, Waseem
Quinti, Isabella
Rankin, Stuart
Rehnstrom, Karola
Reid, Evan
Rhodes, Christopher J.
Richards, Michael
Richardson, Sylvia
Richter, Alex
Roberts, Irene
Rondina, Matthew
Roughley, Catherine
Rue-Albrecht, Kevin
Samarghitean, Crina
Santra, Saikat
Sargur, Ravishankar
Savic, Sinisa
Schulman, Sol
Schulze, Harald
Scully, Marie
Seneviratne, Suranjith
Sewell, Carrock
Shamardina, Olga
Shipley, Debbie
Simeoni, Ilenia
Sivapalaratnam, Suthesh
Smith, Kenneth
Sohal, Aman
Southgate, Laura
Staines, Simon
Staples, Emily
Stauss, Hans
Stein, Penelope
Stephens, Jonathan
Stirrups, Kathleen
Stock, Sophie
Suntharalingam, Jay
Tait, R. Campbell
Talks, Kate
Tan, Yvonne
Thachil, Jecko
Thaventhiran, James
Thomas, Ellen
Thomas, Moira
Thompson, Dorothy
Thrasher, Adrian
Titterton, Catherine
Toh, Cheng-Hock
Toshner, Mark
Treacy, Carmen
Trembath, Richard
Tuna, Salih
Turek, Wojciech
Turro, Ernest
Van Geet, Chris
Veltman, Marijke
von Ziegenweldt, Julie
Vonk Noordegraaf, Anton
Wanjiku, Ivy
Warner, Timothy Q.
Watkins, Hugh
Webster, Andrew
Welch, Steve
Westbury, Sarah
Wharton, John
Whitehorn, Deborah
Wilkins, Martin
Willcocks, Lisa
Williamson, Catherine
Woods, Geoffrey
Wort, John
Yeatman, Nigel
Yong, Patrick
Young, Tim
Yu, Ping
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Opis pliku :
application/pdf
Tytuł :
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
Autorzy :
Blok, Lot Snijders
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H
Nowak, Catherine B
Douglas, Jessica
Swoboda, Kathryn J
Steeves, Marcie A
Sahai, Inderneel
Stumpel, Connie TRM
Stegmann, Alexander PA
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T
Cohen, Ana SA
Agbahovbe, Ruky
Innes, A Micheil
Au, PY Billie
Rankin, Julia
Anderson, Ilse J
Skinner, Steven A
Louie, Raymond J
Warren, Hannah E
Afenjar, Alexandra
Keren, Boris
Nava, Caroline
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H
Price, Susan
Schnur, Rhonda E
Douglas, Ganka
Wentzensen, Ingrid M
Zweier, Christiane
Reis, Andre
Bialer, Martin G
Moore, Christine
Koopmans, Marije
Brilstra, Eva H
Monroe, Glen R
van Gassen, Koen LI
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A
Wortmann, Saskia B
Jakielski, Kathy J
Strand, Edythe A
Kloth, Katja
Bierhals, Tatjana
Roberts, John D
Petrovich, Robert M
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, Sandra
Deriziotis, Pelagia
Faivre, Laurence
Thevenon, Julien
Assoum, Mirna
Shriberg, Lawrence
Kleefstra, Tjitske
Brunner, Han G
Wade, Paul A
Fisher, Simon E
Campeau, Philippe M
McRae, Jeremy F
Clayton, Stephen
Fitzgerald, Tomas W
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D
King, Daniel
Krishnappa, Netravathi
Mason, Laura E
Singh, Tarjinder
Tivey, Adrian R
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D'Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, VK Ajith
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally A
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic J
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Morton, Jenny
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Norman, Andrew
O'Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Parker, Michael J
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela T
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellaker, Chris
Parker, Michael
Firth, Helen V
Wright, Caroline F
FitzPatrick, David R
Barrett, Jeffrey C
Hurles, Matthew E
Study, DDD
Pokaż więcej
Opis pliku :
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Tytuł :
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018)
Autorzy :
Farmery, James HR
Smith, Mike L
Lynch, Andy G
Huissoon, Aarnoud
Furnell, Abigail
Mead, Adam
Levine, Adam P
Manzur, Adnan
Thrasher, Adrian
Greenhalgh, Alan
Parker, Alasdair
Sanchis-Juan, Alba
Richter, Alex
Gardham, Alice
Lawrie, Allan
Sohal, Aman
Creaser-Myers, Amanda
Frary, Amy
Greinacher, Andreas
Themistocleous, Andreas
Peacock, Andrew J
Marshall, Andrew
Mumford, Andrew
Rice, Andrew
Webster, Andrew
Brady, Angie
Koziell, Ania
Manson, Ania
Chandra, Anita
Hensiek, Anke
in't Veld, Anna Huis
Maw, Anna
Kelly, Anne M
Moore, Anthony
Noordegraaf, Anton Vonk
Attwood, Antony
Herwadkar, Archana
Ghofrani, Ardi
Houweling, Arjan C
Girerd, Barbara
Furie, Bruce
Treacy, Carmen M
Millar, Carolyn M
Sewell, Carrock
Roughley, Catherine
Titterton, Catherine
Williamson, Catherine
Hadinnapola, Charaka
Deshpande, Charu
Toh, Cheng-Hock
Bacchelli, Chiara
Patch, Chris
Van Geet, Chris
Babbs, Christian
Bryson, Christine
Penkett, Christopher J
Rhodes, Christopher J
Watt, Christopher
Bethune, Claire
Booth, Claire
Lentaigne, Claire
McJannet, Coleen
Church, Colin
French, Courtney
Samarghitean, Crina
Halmagyi, Csaba
Gale, Daniel
Greene, Daniel
Hart, Daniel
Allsup, David
Bennett, David
Edgar, David
Kiely, David G
Gosal, David
Perry, David J
Keeling, David
Montani, David
Shipley, Debbie
Whitehorn, Deborah
Fletcher, Debra
Krishnakumar, Deepa
Grozeva, Detelina
Kumararatne, Dinakantha
Thompson, Dorothy
Josifova, Dragana
Maher, Eamonn
Wong, Edwin KS
Murphy, Elaine
Dewhurst, Eleanor
Louka, Eleni
Rosser, Elisabeth
Chalmers, Elizabeth
Colby, Elizabeth
Drewe, Elizabeth
McDermott, Elizabeth
Thomas, Ellen
Staples, Emily
Clement, Emma
Matthews, Emma
Wakeling, Emma
Oksenhendler, Eric
Turro, Ernest
Reid, Evan
Wassmer, Evangeline
Raymond, F Lucy
Hu, Fengyuan
Kennedy, Fiona
Soubrier, Florent
Flinter, Frances
Kovacs, Gabor
Polwarth, Gary
Ambegaonkar, Gautum
Arno, Gavin
Hudson, Gavin
Woods, Geoff
Coghlan, Gerry
Hayman, Grant
Arumugakani, Gururaj
Schotte, Gwen
Cook, H Terry
Alachkar, Hana
Allen, Hana Lango
Lango-Allen, Hana
Stark, Hannah
Stauss, Hans
Schulze, Harald
Boggard, Harm J
Baxendale, Helen
Dolling, Helen
Firth, Helen
Gall, Henning
Watson, Henry
Longhurst, Hilary
Markus, Hugh S
Watkins, Hugh
Simeoni, Ilenia
Emmerson, Ingrid
Roberts, Irene
Quinti, Isabella
Wanjiku, Ivy
Gibbs, J Simon R
Thaventhiran, James
Whitworth, James
Hurst, Jane
Collins, Janine
Suntharalingam, Jay
Payne, Jeanette
Thachil, Jecko
Martin, Jennifer M
Martin, Jennifer
Carmichael, Jenny
Maimaris, Jesmeen
Paterson, Joan
Pepke-Zaba, Joanna
Heemskerk, Johan WM
Gebhart, Johanna
Davis, John
Pasi, John
Bradley, John R
Wharton, John
Stephens, Jonathan
Rankin, Julia
Anderson, Julie
Vogt, Julie
von Ziegenweldt, Julie
Rehnstrom, Karola
Megy, Karyn
Talks, Kate
Peerlinck, Kathelijne
Yates, Katherine
Freson, Kathleen
Stirrups, Kathleen
Gomez, Keith
Smith, Kenneth GC
Carss, Keren
Rue-Albrecht, Kevin
Gilmour, Kimberley
Masati, Larahmie
Scelsi, Laura
Southgate, Laura
Ranganathan, Lavanya
Ginsberg, Lionel
Devlin, Lisa
Willcocks, Lisa
Ormondroyd, Liz
Lorenzo, Lorena
Harper, Lorraine
Allen, Louise
Daugherty, Louise
Chitre, Manali
Kurian, Manju
Humbert, Marc
Tischkowitz, Marc
Bitner-Glindzicz, Maria
Erwood, Marie
Scully, Marie
Veltman, Marijke
Caulfield, Mark
Layton, Mark
McCarthy, Mark
Ponsford, Mark
Toshner, Mark
Bleda, Marta
Wilkins, Martin
Mathias, Mary
Reilly, Mary
Afzal, Maryam
Brown, Matthew
Rondina, Matthew
Stubbs, Matthew
Haimel, Matthias
Lees, Melissa
Laffan, Michael A
Browning, Michael
Gattens, Michael
Richards, Michael
Michaelides, Michel
Lambert, Michele P
Makris, Mike
De Vries, Minka
Mahdi-Rogers, Mohamed
Saleem, Moin
Thomas, Moira
Holder, Muriel
Eyries, Melanie
Clements-Brod, Naomi
Canham, Natalie
Dormand, Natalie
Van Zuydam, Natalie
Kingston, Nathalie
Ghali, Neeti
Cooper, Nichola
Morrell, Nicholas W
Yeatman, Nigel
Roy, Noemi
Shamardina, Olga
Alavijeh, Omid S
Gresele, Paolo
Nurden, Paquita
Chinnery, Patrick
Deegan, Patrick
Yong, Patrick
Yu-Wai-Man, Patrick
Corris, Paul A
Calleja, Paul
Gissen, Paul
Bolton-Maggs, Paula
Rayner-Matthews, Paula
Ghataorhe, Pavandeep K
Gordins, Pavel
Stein, Penelope
Collins, Peter
Dixon, Peter
Kelleher, Peter
Ancliff, Phil
Yu, Ping
Tait, R Campbell
Linger, Rachel
Doffinger, Rainer
Machado, Rajiv
Kazmi, Rashid
Sargur, Ravishankar
Favier, Remi
Tan, Rhea
Liesner, Ri
Antrobus, Richard
Sandford, Richard
Scott, Richard
Trembath, Richard
Horvath, Rita
Hadden, Rob
MackenzieRoss, Rob V
Henderson, Robert
MacLaren, Robert
James, Roger
Ghurye, Rohit
DaCosta, Rosa
Hague, Rosie
Mapeta, Rutendo
Armstrong, Ruth
Noorani, Sadia
Murng, Sai
Santra, Saikat
Tuna, Salih
Johnson, Sally
Chong, Sam
Lear, Sara
Walker, Sara
Goddard, Sarah
Mangles, Sarah
Westbury, Sarah
Mehta, Sarju
Hackett, Scott
Nejentsev, Sergey
Moledina, Shahin
Bibi, Shahnaz
Meehan, Sharon
Othman, Shokri
Revel-Vilk, Shoshana
Holden, Simon
McGowan, Simon
Staines, Simon
Savic, Sinisa
Burns, Siobhan
Grigoriadou, Sofia
Papadia, Sofia
Ashford, Sofie
Schulman, Sol
Ali, Sonia
Park, Soo-Mi
Davies, Sophie
Stock, Sophie
Ali, Souad
Deevi, Sri VV
Graf, Stefan
Ghio, Stefano
Wort, Stephen J
Jolles, Stephen
Austin, Steve
Welch, Steve
Meacham, Stuart
Rankin, Stuart
Walker, Suellen
Seneviratne, Suranjith
Holder, Susan
Sivapalaratnam, Suthesh
Richardson, Sylvia
Kuijpers, Taco
Kuijpers, Taco W
Bariana, Tadbir K
Bakchoul, Tamam
Everington, Tamara
Renton, Tara
Young, Tim
Aitman, Timothy
Warner, Timothy Q
Vale, Tom
Hammerton, Tracey
Pollock, Val
Matser, Vera
Cookson, Victoria
Clowes, Virginia
Qasim, Waseem
Wei, Wei
Erber, Wendy N
Ouwehand, Willem H
Astle, William
Egner, William
Turek, Wojciech
Henskens, Yvonne
Tan, Yvonne
Dis, NIHR BioResource-Rare
Pokaż więcej
Opis pliku :
application/pdf
Tytuł :
Histone lysine methylases and demethylases in the landscape of human developmental disorders
Autorzy :
Faundes, Víctor
Newman, William G.
Bernardini, Laura
Canham, Natalie
Clayton-Smith, Jill
Dallapiccola, Bruno
Davies, Sally J.
Demos, Michelle K.
Goldman, Amy
Gill, Harinder
Horton, Rachel
Kerr, Bronwyn
Kumar, Dhavendra
Lehman, Anna
McKee, Shane
Morton, Jenny
Parker, Michael J.
Rankin, Julia
Robertson, Lisa
Temple, I. Karen
Banka, Siddharth
Pokaż więcej
Temat :
Genetics(clinical)
chromatin remodeling
KMT5B
KDM5B
Genetics
KMT2C
KMT2B
histone lysine methyltransferase
histone lysine demethylase
Report
ASH1L
Developmental disorders
Źródło :
Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith, J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, ' Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. ', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187 . https://doi.org/10.1016/j.ajhg.2017.11.013
Opis pliku :
application/pdf; text
Tytuł :
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
Autorzy :
Farmery, James H. R.
Smith, Mike L.
Huissoon, Aarnoud
Furnell, Abigail
Mead, Adam
Levine, Adam P.
Manzur, Adnan
Thrasher, Adrian
Greenhalgh, Alan
Parker, Alasdair
Sanchis-Juan, Alba
Richter, Alex
Gardham, Alice
Lawrie, Allan
Sohal, Aman
Creaser-Myers, Amanda
Frary, Amy
Greinacher, Andreas
Themistocleous, Andreas
Peacock, Andrew J.
Marshall, Andrew
Mumford, Andrew
Rice, Andrew
Webster, Andrew
Brady, Angie
Koziell, Ania
Manson, Ania
Chandra, Anita
Hensiek, Anke
Veld, Anna Huis In'T.
Maw, Anna
Kelly, Anne M.
Moore, Anthony
Vonk Noordegraaf, Anton
Attwood, Antony
Herwadkar, Archana
Ghofrani, Ardi
Houweling, Arjan C.
Girerd, Barbara
Furie, Bruce
Treacy, Carmen M.
Millar, Carolyn M.
Sewell, Carrock
Roughley, Catherine
Titterton, Catherine
Williamson, Catherine
Hadinnapola, Charaka
Deshpande, Charu
Toh, Cheng-Hock
Bacchelli, Chiara
Patch, Chris
Geet, Chris Van
Babbs, Christian
Bryson, Christine
Penkett, Christopher J.
Rhodes, Christopher J.
Watt, Christopher
Bethune, Claire
Booth, Claire
Lentaigne, Claire
McJannet, Coleen
Church, Colin
French, Courtney
Samarghitean, Crina
Halmagyi, Csaba
Gale, Daniel
Greene, Daniel
Hart, Daniel
Allsup, David
Bennett, David
Edgar, David
Kiely, David G.
Gosal, David
Perry, David J.
Keeling, David
Montani, David
Shipley, Debbie
Whitehorn, Deborah
Fletcher, Debra
Krishnakumar, Deepa
Grozeva, Detelina
Kumararatne, Dinakantha
Thompson, Dorothy
Josifova, Dragana
Maher, Eamonn
Wong, Edwin K. S.
Murphy, Elaine
Dewhurst, Eleanor
Louka, Eleni
Rosser, Elisabeth
Chalmers, Elizabeth
Colby, Elizabeth
Drewe, Elizabeth
McDermott, Elizabeth
Thomas, Ellen
Staples, Emily
Clement, Emma
Matthews, Emma
Wakeling, Emma
Oksenhendler, Eric
Turro, Ernest
Reid, Evan
Wassmer, Evangeline
Raymond, F. Lucy
Hu, Fengyuan
Kennedy, Fiona
Soubrier, Florent
Flinter, Frances
Kovacs, Gabor
Polwarth, Gary
Ambegaonkar, Gautum
Arno, Gavin
Hudson, Gavin
Woods, Geoff
Coghlan, Gerry
Hayman, Grant
Arumugakani, Gururaj
Schotte, Gwen
Cook, H. Terry
Alachkar, Hana
Lango Allen, Hana
Lango-Allen, Hana
Stark, Hannah
Stauss, Hans
Schulze, Harald
Boggard, Harm J.
Baxendale, Helen
Dolling, Helen
Firth, Helen
Gall, Henning
Watson, Henry
Longhurst, Hilary
Markus, Hugh S.
Watkins, Hugh
Simeoni, Ilenia
Emmerson, Ingrid
Roberts, Irene
Quinti, Isabella
Wanjiku, Ivy
Gibbs, J. Simon R.
Thaventhiran, James
Whitworth, James
Hurst, Jane
Collins, Janine
Suntharalingam, Jay
Payne, Jeanette
Thachil, Jecko
Martin, Jennifer M.
Carmichael, Jenny
Maimaris, Jesmeen
Paterson, Joan
Pepke-Zaba, Joanna
Heemskerk, Johan W. M.
Gebhart, Johanna
Davis, John
Pasi, John
Bradley, John R.
Wharton, John
Stephens, Jonathan
Rankin, Julia
Anderson, Julie
Vogt, Julie
von Ziegenweldt, Julie
Rehnstrom, Karola
Megy, Karyn
Talks, Kate
Peerlinck, Kathelijne
Yates, Katherine
Freson, Kathleen
Stirrups, Kathleen
Gomez, Keith
Smith, Kenneth G. C.
Rue-Albrecht, Kevin
Gilmour, Kimberley
Masati, Larahmie
Scelsi, Laura
Southgate, Laura
Ranganathan, Lavanya
Ginsberg, Lionel
Devlin, Lisa
Willcocks, Lisa
Ormondroyd, Liz
Lorenzo, Lorena
Harper, Lorraine
Allen, Louise
Daugherty, Louise
Chitre, Manali
Kurian, Manju
Humbert, Marc
Tischkowitz, Marc
Bitner-Glindzicz, Maria
Erwood, Marie
Scully, Marie
Veltman, Marijke
Caulfield, Mark
Layton, Mark
McCarthy, Mark
Ponsford, Mark
Toshner, Mark
Bleda, Marta
Wilkins, Martin
Mathias, Mary
Reilly, Mary
Afzal, Maryam
Brown, Matthew
Rondina, Matthew
Stubbs, Matthew
Haimel, Matthias
Lees, Melissa
Laffan, Michael A.
Browning, Michael
Gattens, Michael
Richards, Michael
Michaelides, Michel
Lambert, Michele P.
Makris, Mike
de Vries, Minka
Mahdi-Rogers, Mohamed
Saleem, Moin
Thomas, Moira
Holder, Muriel
Eyries, M. lanie
Clements-Brod, Naomi
Canham, Natalie
Dormand, Natalie
Zuydam, Natalie Van
Kingston, Nathalie
Ghali, Neeti
Cooper, Nichola
Morrell, Nicholas W.
Yeatman, Nigel
Roy, Noémi
Shamardina, Olga
Alavijeh, Omid S.
Gresele, Paolo
Nurden, Paquita
Chinnery, Patrick
Deegan, Patrick
Yong, Patrick
Man, Patrick Yu Wai
Corris, Paul A.
Calleja, Paul
Gissen, Paul
Bolton-Maggs, Paula
Rayner-Matthews, Paula
Ghataorhe, Pavandeep K.
Gordins, Pavel
Stein, Penelope
Collins, Peter
Dixon, Peter
Kelleher, Peter
Ancliff, Phil
Yu, Ping
Tait, R. Campbell
Linger, Rachel
Doffinger, Rainer
Machado, Rajiv
Kazmi, Rashid
Sargur, Ravishankar
Favier, Remi
Tan, Rhea
Liesner, Ri
Antrobus, Richard
Sandford, Richard
Scott, Richard
Trembath, Richard
Horvath, Rita
Hadden, Rob
Mackenzieross, Rob V.
Henderson, Robert
MacLaren, Robert
James, Roger
Ghurye, Rohit
Dacosta, Rosa
Hague, Rosie
Mapeta, Rutendo
Armstrong, Ruth
Noorani, Sadia
Murng, Sai
Santra, Saikat
Tuna, Salih
Johnson, Sally
Chong, Sam
Lear, Sara
Walker, Sara
Goddard, Sarah
Mangles, Sarah
Westbury, Sarah
Mehta, Sarju
Hackett, Scott
Nejentsev, Sergey
Moledina, Shahin
Bibi, Shahnaz
Meehan, Sharon
Othman, Shokri
Revel-Vilk, Shoshana
Holden, Simon
McGowan, Simon
Staines, Simon
Savic, Sinisa
Burns, Siobhan
Grigoriadou, Sofia
Papadia, Sofia
Ashford, Sofie
Schulman, Sol
Ali, Sonia
Park, Soo-Mi
Davies, Sophie
Stock, Sophie
Ali, Souad
Deevi, Sri V. V.
Gräf, Stefan
Ghio, Stefano
Wort, Stephen J.
Jolles, Stephen
Austin, Steve
Welch, Steve
Meacham, Stuart
Rankin, Stuart
Walker, Suellen
Seneviratne, Suranjith
Holder, Susan
Sivapalaratnam, Suthesh
Richardson, Sylvia
Kuijpers, Taco
Kuijpers, Taco W.
Bariana, Tadbir K.
Bakchoul, Tamam
Everington, Tamara
Renton, Tara
Young, Tim
Aitman, Timothy
Warner, Timothy Q.
Vale, Tom
Hammerton, Tracey
Pollock, Val
Matser, Vera
Cookson, Victoria
Clowes, Virginia
Qasim, Waseem
Wei, Wei
Erber, Wendy N.
Ouwehand, Willem H.
Astle, William
Egner, William
Turek, Wojciech
Henskens, Yvonne
Tan, Yvonne
Lynch, Andy G.
Pokaż więcej
Temat :
a_open_article_in_open_journal
Źródło :
Scientific Reports, 8(1). Nature Publishing Group

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