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Wyświetlanie 1-20 z 20
Tytuł :
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation
Autorzy :
Wooderchak-Donahue, Whitney L.Aff1, Aff2
Johnson, Peter
McDonald, JamieAff2, Aff3
Blei, Francine
Berenstein, Alejandro
Sorscher, Michelle
Mayer, Jennifer
Scheuerle, Angela E.
Lewis, Tracey
Grimmer, J. Fredrik
Richter, Gresham T.
Steeves, Marcie A.
Lin, Angela E.
Stevenson, David A.
Bayrak-Toydemir, PinarAff1, Aff2
Pokaż więcej
Źródło :
European Journal of Human Genetics. 26(10):1521-1536
Czasopismo naukowe
Tytuł :
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy :
Snijders Blok, LotAff1, Aff2, Aff3
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 T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
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, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło :
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł :
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy :
Blok, Lot SnijdersAff1, Aff2, Aff3
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 T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
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, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło :
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł :
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Autorzy :
Snijders Blok, LotAff1, Aff2, Aff3
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 T. R. M.
Stegmann, Alexander P. A.
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T.Aff14, Aff15
Cohen, Ana S. A.Aff14, Aff15
Agbahovbe, RukyAff14, Aff15
Innes, A. Micheil
Au, P. Y. Billie
Rankin, Julia
Anderson, Ilse J.
Skinner, Steven A.
Louie, Raymond J.
Warren, Hannah E.
Afenjar, Alexandra
Keren, BorisAff21, Aff22
Nava, CarolineAff21, Aff22, Aff23
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, André
Bialer, Martin G.
Moore, Christine
Koopmans, Marije
Brilstra, Eva H.
Monroe, Glen R.
van Gassen, Koen L. I.
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A.
Wortmann, Saskia B.Aff37, Aff38, Aff39
Jakielski, Kathy J.
Strand, Edythe A.
Kloth, Katja
Bierhals, Tatjana
The DDD study
Roberts, John D.
Petrovich, Robert M.
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, SandraAff1, Aff3
Deriziotis, Pelagia
Faivre, LaurenceAff44, Aff45
Thevenon, JulienAff44, Aff45
Assoum, MirnaAff44, Aff45
Shriberg, Lawrence
Kleefstra, TjitskeAff1, Aff3
Brunner, Han G.Aff1, Aff3, Aff10
Wade, Paul A.
Fisher, Simon E.Aff2, Aff3
Campeau, Philippe M.Aff4, Aff47
Pokaż więcej
Źródło :
Nature Communications. 9(1)
Czasopismo naukowe
Tytuł :
Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders
Autorzy :
Barbosa, Sónia
Greville-Heygate, Stephanie
Bonnet, Maxime
Godwin, Annie Louise
Fagotto-Kaufmann, Christine
Kajava, Andrey V.
Laouteouet, Damien
Mawby, Rebecca
Wai, Htoo Aung
Dingemans, Alexander
De Vries, Bert
Willems, Marjorlaine
Capri, Yline
Mehta, Sarju G.
Cox, Helen
Goudie, David
Vansenne, Fleur
Turnpenny, Peter
Vincent, Marie
Lesca, Gaëtan
Hertecant, Jozef
Rodriguez, Diana
Marion, Gérard
Putoux, Audrey
Ramsey, Keri
Cantagrel, Vincent
Banka, Siddharth
Sarkar, Ajoy
Steeves, Marcie
Parker, Michael
Clement, Emma
Moutton, Sébastien
Tran-Mau-Them, Frédéric
Piton, Amélie
Guille, Matt
Debant, Anne
Schmidt, Susanne
Baralle, Diana
Pokaż więcej
Temat :
APC-PAID
intellectual disability
microcephaly
macrocephaly
autism
Biology
Źródło :
Barbosa, S, Greville-Heygate, S, Bonnet, M, Godwin, A L, Fagotto-Kaufmann, C, Kajava, A V, Laouteouet, D, Mawby, R, Wai, H A, Dingemans, A, De Vries, B, Willems, M, Capri, Y, Mehta, S G, Cox, H, Goudie, D, Vansenne, F, Turnpenny, P, Vincent, M, Lesca, G, Hertecant, J, Rodriguez, D, Marion, G, Putoux, A, Ramsey, K, Cantagrel, V, Banka, S, Sarkar, A, Steeves, M, Parker, M, Clement, E, Moutton, S, Tran-Mau-Them, F, Piton, A, Guille, M, Debant, A, Schmidt, S & Baralle, D 2020, ' Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders ', American Journal of Human Genetics, vol. 106, no. 3, pp. 338-355 . https://doi.org/10.1016/j.ajhg.2020.01.018
Opis pliku :
application/pdf
Tytuł :
Recognition and management of adults with Turner syndrome:From the transition of adolescence through the senior years
Autorzy :
Lin, Angela E
Prakash, Siddharth K
Viuff, Mette H
Levitsky, Lynne L
Rivera-Davila, Michelle
Crenshaw, Melissa L
Hansen, Lars
Colvin, Mary K
Hayes, Frances J
Lilly, Evelyn
Snyder, Emma A
Nader-Eftekhari, Shahla
Aldrich, Melissa B
Bhatt, Ami B
Prager, Laura M
Arenivas, Ana
Skakkebaek, Anne
Steeves, Marcie A
Kreher, Jeffrey B
Gravholt, Claus H
Pokaż więcej
Temat :
sex chromosome abnormality syndrome
clinical history
education
transitioning
hormone replacement therapy
infertility
Turner syndrome
Źródło :
Lin, A E, Prakash, S K, Andersen, N H, Viuff, M H, Levitsky, L L, Rivera-Davila, M, Crenshaw, M L, Hansen, L, Colvin, M K, Hayes, F J, Lilly, E, Snyder, E A, Nader-Eftekhari, S, Aldrich, M B, Bhatt, A B, Prager, L M, Arenivas, A, Skakkebaek, A, Steeves, M A, Kreher, J B & Gravholt, C H 2019, ' Recognition and management of adults with Turner syndrome : From the transition of adolescence through the senior years ', American Journal of Medical Genetics, Part A, vol. 179, no. 10, pp. 1987-2033 . https://doi.org/10.1002/ajmg.a.61310
Lin, A E, Prakash, S K, Viuff, M H, Levitsky, L L, Rivera-Davila, M, Crenshaw, M L, Hansen, L, Colvin, M K, Hayes, F J, Lilly, E, Snyder, E A, Nader-Eftekhari, S, Aldrich, M B, Bhatt, A B, Prager, L M, Arenivas, A, Skakkebaek, A, Steeves, M A, Kreher, J B & Gravholt, C H 2019, ' Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.61310
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 :
application/pdf
Tytuł :
OP338 - Development of a clinical assay for reporting polygenic risk scores.
Autorzy :
Lebo, Matthew (AUTHOR)
Hao, Limin (AUTHOR)
Berriz, Gabriel (AUTHOR)
Danowski, Morgan (AUTHOR)
Koch, Christopher (AUTHOR)
Kumar, Prathik Korategere (AUTHOR)
Lewis, Anna (AUTHOR)
Parpattedar, Shruti (AUTHOR)
Steeves, Marcie (AUTHOR)
Yu, Wanfeng (AUTHOR)
Kraft, Peter (AUTHOR)
Vassy, Jason (AUTHOR)
Pokaż więcej
Źródło :
Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS217-S217. 1p.
Czasopismo naukowe
Tytuł :
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.
Autorzy :
Snyder, Emma A. (AUTHOR)
San Roman, Adrianna K. (AUTHOR)
Piña-Aguilar, Raul E. (AUTHOR)
Steeves, Marcie A. (AUTHOR)
McNamara, Erin A. (AUTHOR)
Souter, Irene (AUTHOR)
Hayes, Frances J. (AUTHOR)
Levitsky, Lynne L. (AUTHOR)
Lin, Angela E. (AUTHOR)
Pokaż więcej
Źródło :
European Journal of Medical Genetics. Mar2021, Vol. 64 Issue 3, pN.PAG-N.PAG. 1p.
Czasopismo naukowe
Tytuł :
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Autorzy :
Johnson BV; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Kumar R; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Oishi S; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia.
Alexander S; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia.
Kasherman M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia.
Vega MS; Queensland Brain Institute, The University of Queensland, Brisbane, Australia.
Ivancevic A; University of Adelaide and Robinson Research Institute, Adelaide, Australia; BioFrontiers Institute, University of Colorado Boulder, Boulder, Colorado.
Gardner A; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Domingo D; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Corbett M; University of Adelaide and Robinson Research Institute, Adelaide, Australia.
Parnell E; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Yoon S; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Oh T; Department of Medical Genetics, British Columbia Women's Hospital and University of British Columbia, Vancouver, British Columbia, Canada.
Lines M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Lefroy H; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Services Foundation Trust, Oxford, United Kingdom.
Van Allen M; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.
Mercier S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
Küry S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
Bézieau S; Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes and l'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Nantes, Nantes, France.
Pasquier L; Service de Génétique Clinique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Centre Hospitalier Universitaire Hôpital Sud, Rennes, France.
Raynaud M; Centre Hospitalier Régional Universitaire de Tours, Service de Génétique, Unité Nixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France.
Afenjar A; Groupe de Recherche Clinique No. 19, ConCer-LD, Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Centres de Référence Maladies Rares des Déficits Intellectuels de Causes Rares, Paris, France.
Billette de Villemeur T; Sorbonne Université, Groupe de Recherche Clinique No. 19, ConCer-LD, Neuropédiatrie, Centres de Référence Maladies Rares Neurogénétique, Institut National de la Santé et de la Recherche Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.
Keren B; Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.
Désir J; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
Marangoni M; Erasme University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
Dikow N; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
VanHasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.
Weiss M; Department of Clinical Genetics, Vrije Universiteit University Medical Center, Amsterdam, The Netherlands.
Zwijnenburg P; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Sa J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Reis CF; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
López-Otín C; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain; Centro de Investigación Biomédica en Red de Cáncer, Spain.
Santiago-Fernández O; Departamento de Bioquímica y Biología Molecular, Instituto Universitário de Oncología del Principado de Asturias, Universidad de Oviedo, Oviedo, Spain.
Fernández-Jaén A; Unidad de Neurología Infantil, Hospital Universitário Quirón Madrid, Madrid, Spain.
Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
Goldstein A; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Madan-Khetarpal S; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
Infante E; Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
Zackai E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Mcdougall C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.
Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
Pena L; Division of Human Genetics, Cincinnati Children's Hospital; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Schoch K; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
Pinto E Vairo F; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.
Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Ewing SA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.
Perry MS; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas.
Koenig MK; Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas.
Keegan CE; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
Schuette JL; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
Asher S; Translational Medicine & Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina.
Smith LD; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, North Carolina.
Rosenfeld JA; Baylor College of Medicine, Houston, Texas.
Bhoj E; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Kaplan P; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Li D; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Cutcutache I; Translational Medicine, UCB Pharma, Slough, United Kingdom.
Page M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.
Armstrong M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium.
Lin AE; Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts.
Steeves MA; Medical Genetics Unit, Mass General Hospital for Children, Boston, Massachusetts.
Hollander ND; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Demirdas S; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Koboldt DC; Nationwide Children's Hospital, Columbus, Ohio.
Bartholomew D; Nationwide Children's Hospital, Columbus, Ohio.
Mosher TM; Nationwide Children's Hospital, Columbus, Ohio.
Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio.
Shieh C; David Geffen School of Medicine, University of California-Los Angeles, California.
Sanchez-Lara PA; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Tezcan K; Department of Genetics, Kaiser Permanente, Sacramento, California.
Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Danylchuk NR; Department of Genetic Counseling, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Asamoah A; Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky.
Jackson KE; Department of Pediatrics, University of Louisville School of Medicine, Louisville, Kentucky.
Yachelevich N; Clinical Genetics Services, Department of Pediatrics, New York University School of Medicine, New York, New York.
Au M; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.
Pérez-Jurado LA; University of Adelaide and Robinson Research Institute, Adelaide, Australia; Women's and Children's Hospital, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia; Hospital del Mar Research Institute, Network Research Centre for Rare Diseases and Universitat Pompeu Fabra, Barcelona, Spain.
Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Penzes P; Department of Physiology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Wood SA; Griffith Institute for Drug Discovery, Griffith University, Brisbane, Australia.
Burne T; Queensland Brain Institute, The University of Queensland, Brisbane, Australia; Queensland Centre for Mental Health Research, Wacol, Queensland, Australia.
Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California; Department of Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Piper M; School of Biomedical Sciences, The University of Queensland, Brisbane, Australia; Queensland Brain Institute, The University of Queensland, Brisbane, Australia.
Gécz J; University of Adelaide and Robinson Research Institute, Adelaide, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia. Electronic address: .
Jolly LA; University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address: .
Pokaż więcej
Corporate Authors :
Undiagnosed Diseases Network
Źródło :
Biological psychiatry [Biol Psychiatry] 2020 Jan 15; Vol. 87 (2), pp. 100-112. Date of Electronic Publication: 2019 Jun 29.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Developmental Disabilities*/genetics
Intellectual Disability*/genetics
Transforming Growth Factor beta*
Animals ; Female ; Haploinsufficiency ; Humans ; Male ; Mice ; Phenotype ; Signal Transduction ; Ubiquitin Thiolesterase/genetics ; Ubiquitin Thiolesterase/metabolism
Czasopismo naukowe
    Wyświetlanie 1-20 z 20

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