Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Carré, Wilfrid"" wg kryterium: Autor


Tytuł :
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders
Autorzy :
Beaumont, Marie
Akloul, Linda
Carré, WilfridAff1, Aff3
Quélin, Chloé
Journel, Hubert
Pasquier, Laurent
Fradin, Mélanie
Odent, SylvieAff2, Aff3
Hamdi-Rozé, Houda
Watrin, Erwan
Dupé, Valérie
Dubourg, ChristèleAff1, Aff3
David, VéroniqueAff1, Aff3
Pokaż więcej
Źródło :
Human Genetics. 138(4):363-374
Czasopismo naukowe
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 :
Integrated clinical and omics approach to rare diseases : Novel genes and oligogenic inheritance in holoprosencephaly
Autorzy :
Kim, Artem
Savary, Clara
Dubourg, Christèle
Carré, Wilfrid
Mouden, Charlotte
Hamdi-Rozé, Houda
Guyodo, Hélène
Douce, Jerome Le
Génin, Emmanuelle
Campion, Dominique
Dartigues, Jean François
Deleuze, Jean François
Lambert, Jean Charles
Redon, Richard
Ludwig, Thomas
Grenier-Boley, Benjamin
Letort, Sébastien
Lindenbaum, Pierre
Meyer, Vincent
Quenez, Olivier
Dina, Christian
Bellenguez, Céline
Charbonnier-Le Clézio, Camille
Giemza, Joanna
Chatel, Stéphanie
Férec, Claude
Le Marec, Hervé
Letenneur, Luc
Nicolas, Gaël
Rouault, Karen
Bacq, Delphine
Boland, Anne
Lechner, Doris
Wijmenga, Cisca
Swertz, Morris A.
Eline Slagboom, P.
Van Ommen, Gert Jan B.
Van Duijn, Cornelia M.
Boomsma, Dorret I.
De Bakker, Paul I.W.
Bovenberg, Jasper A.
De Craen, Anton J.M.
Beekman, Marian
Hofman, Albert
Willemsen, Gonneke
Wolffenbuttel, Bruce
Platteel, Mathieu
Du, Yuanping
Chen, Ruoyan
Cao, Hongzhi
Cao, Rui
Sun, Yushen
Sujie Cao, Jeremy
Van Dijk, Freerk
Neerincx, Pieter B.T.
Deelen, Patrick
Dijkstra, Martijn
Byelas, George
Kanterakis, Alexandros
Bot, Jan
Ye, Kai
Lameijer, Eric Wubbo
Vermaat, Martijn
Laros, Jeroen F.J.
Den Dunnen, Johan T.
De Knijff, Peter
Karssen, Lennart C.
Van Leeuwen, Elisa M.
Amin, Najaf
Koval, Vyacheslav
Rivadeneira, Fernando
Estrada, Karol
Hehir-Kwa, Jayne Y.
De Ligt, Joep
Abdellaoui, Abdel
Hottenga, Jouke Jan
Mathijs Kattenberg, V.
Van Enckevort, David
Mei, Hailiang
Santcroos, Mark
Van Schaik, Barbera D.C.
Handsaker, Robert E.
McCarroll, Steven A.
Eichler, Evan E.
Ko, Arthur
Sudmant, Peter
Francioli, Laurent C.
Kloosterman, Wigard P.
Nijman, Isaac J.
Guryev, Victor
Pasquier, Laurent
Flori, Elisabeth
Gonzales, Marie
Bénéteau, Claire
Boute, Odile
Attié-Bitach, Tania
Roume, Joelle
Goujon, Louise
Akloul, Linda
Odent, Sylvie
Watrin, Erwan
Dupé, Valérie
De Tayrac, Marie
David, Véronique
Pokaż więcej
Temat :
exome
holoprosencephaly
oligogenic inheritance
primary cilia
sonic hedgehog
Clinical Neurology
Źródło :
Brain, 142(1), 35. Oxford University Press
Opis pliku :
text/plain
Tytuł :
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Autorzy :
Marini, Carla
Porro, Alessandro
Rastetter, Agnès
Dalle, Carine
Rivolta, Ilaria
Bauer, Daniel
Oegema, Renske
Nava, Caroline
Parrini, Elena
Mei, Davide
Mercer, Catherine
Dhamija, Radhika
Chambers, Chelsea
Coubes, Christine
Thevenon, Julien
Kuentz, Paul
Julia, Sophie
Pasquier, Laurent
Dubourg, Christèle
Carré, Wilfrid
Rosati, Anna
Melani, Federico
Pisano, Tiziana
Giardino, Maria
Innes, A Micheil
Alembik, Yves
Scheidecker, Sophie
Santos, Manuela
Figueiroa, Sonia
Garrido, Cristina
Fusco, Carlo
Frattini, Daniele
Spagnoli, Carlotta
Binda, Anna
Granata, Tiziana
Ragona, Francesca
Freri, Elena
Franceschetti, Silvana
Canafoglia, Laura
Castellotti, Barbara
Gellera, Cinzia
Milanesi, Raffaella
Mancardi, Maria Margherita
Clark, Damien
Kok, Fernando
Helbig, Katherine
Ichikawa, Shoji
Sadler, Laurie
Neupauerová, Jana
Laššuthová, Petra
Šterbová, Katalin
Laridon, Annick
Brilstra, Eva
Koeleman, Bobby
Lemke, Johannes
Zara, Federico
Striano, Pasquale
Soblet, Julie
Smits, Guillaume
Deconinck, Nicolas
Barbuti, Andrea
DiFrancesco, Dario
Leguern, Eric
Guerrini, Renzo
Santoro, Bina
Hamacher, Kay
Thiel, Gerhard
Moroni, Anna
Difrancesco, Jacopo
Depienne, Christel
Pokaż więcej
Temat :
epilepsy
intellectual disability
HCN1
clinical spectrum
ion channel
[SDV]Life Sciences [q-bio]
Źródło :
Brain - A Journal of Neurology
Brain - A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
Tytuł :
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Autorzy :
Guissart, Claire
Latypova, Xenia
Rollier, Paul
Khan, Tahir
Stamberger, Hannah
McWalter, Kirsty
Cho, Megan
Kjaergaard, Susanne
Weckhuysen, Sarah
Lesca, Gaetan
Besnard, Thomas
Ounap, Katrin
Schema, Lynn
Chiocchetti, Andreas
McDonald, Marie
De Bellescize, Julitta
Vincent, Marie
Van Esch, Hilde
Sattler, Shannon
Forghani, Irman
Thiffault, Isabelle
Freitag, Christine
Barbouth, Deborah Sara
Cadieux-Dion, Maxime
Willaert, Rebecca
Guillen Sacoto, Maria
Safina, Nicole
Dubourg, Christèle
Grote, Lauren
Carré, Wilfrid
Saunders, Carol
Pajusalu, Sander
Farrow, Emily
Boland, Anne
Karlowicz, Danielle Hays
Deleuze, Jean-François
Wojcik, Monica
Pressman, Rena
Isidor, Bertrand
Vogels, Annick
Van Paesschen, Wim
Al-Gazali, Lihadh
Al Shamsi, Aisha Mohamed
Claustres, Mireille
Pujol, Aurora
Sanders, Stephan
Rivier, Francois
Leboucq, Nicolas
Cogné, Benjamin
Sasorith, Souphatta
Sanlaville, Damien
Retterer, Kyle
Odent, Sylvie
Katsanis, Nicholas
Bézieau, Stephane
Koenig, Michel
Davis, Erica
Pasquier, Laurent
Küry, Sébastien
Pokaż więcej
Temat :
epilepsy
cerebellar ataxia
neurodevelopmental disorder
RORA
[SDV]Life Sciences [q-bio]
[SDV.GEN]Life Sciences [q-bio]/Genetics
autistic features
dual molecular effects
intellectual disability
Article
Human medicine
Źródło :
American Journal of Human Genetics
The American journal of human genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (5), pp.744 - 759. ⟨10.1016/j.ajhg.2018.02.021⟩
Opis pliku :
Print-Electronic; application/pdf
Tytuł :
Additional file 5: of Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering
Autorzy :
Cogburn, Larry
Smarsh, Danielle
Xiaofei Wang
Nares Trakooljul
Carré, Wilfrid
White, Harold
Pokaż więcej
Temat :
Biophysics
Biochemistry
29999 Physical Sciences not elsewhere classified
Cell Biology
Genetics
Molecular Biology
Physiology
Pharmacology
69999 Biological Sciences not elsewhere classified
Developmental Biology
Inorganic Chemistry
60506 Virology
Computational Biology

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies