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1
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders 미리보기

학술저널

issue
European Journal of Human Genetics. 32(2):190-199
Author
Husson, ThomasAff1, Aff2
Lecoquierre, François
Nicolas, Gaël
Richard, Anne-Claire
Afenjar, Alexandra
Audebert-Bellanger, Séverine
Badens, Catherine
Bilan, Frédéric
Bizaoui, Varoona
Boland, Anne
Bonnet-Dupeyron, Marie-Noëlle
Brischoux-Boucher, Elise
Bonnet, CélineAff12, Aff13
Bournez, Marie
Boute, Odile
Brunelle, Perrine
Caumes, Roseline
Charles, Perrine
Chassaing, Nicolas
Chatron, NicolasAff19, Aff20
Cogné, BenjaminAff21, Aff22
Colin, Estelle
Cormier-Daire, ValérieAff24, Aff25
Dard, Rodolphe
Dauriat, Benjamin
Delanne, JulianAff28, Aff29
Deleuze, Jean-François
Demurger, Florence
Denommé-Pichon, Anne-SophieAff29, Aff31
Depienne, Christel
Dieux, Anne
Dubourg, ChristèleAff33, Aff34
Edery, PatrickAff19, Aff35
El Chehadeh, SalimaAff36, Aff37, Aff38
Faivre, LaurenceAff28, Aff29
Fergelot, Patricia
Fradin, Mélanie
Garde, AuroreAff28, Aff29
Geneviève, DavidAff41, Aff42
Gilbert-Dussardier, Brigitte
Goizet, CyrilAff44, Aff45
Goldenberg, Alice
Gouy, EvanAff19, Aff46
Guerrot, Anne-Marie
Guimier, Anne
Harzalla, Inès
Héron, Delphine
Isidor, BertrandAff21, Aff22
Lacombe, Didier
Le Guillou Horn, XavierAff50, Aff51
Keren, Boris
Kuechler, Alma
Lacaze, Elodie
Lavillaureix, Alinoë
Lehalle, Daphné
Lesca, Gaëtan
Lespinasse, James
Levy, Jonathan
Lyonnet, StanislasAff57, Aff58
Morel, Godeliève
Jean-Marçais, Nolwenn
Marlin, Sandrine
Marsili, Luisa
Mignot, Cyril
Nambot, Sophie
Nizon, MathildeAff21, Aff22
Olaso, Robert
Pasquier, Laurent
Perrin, Laurine
Petit, FlorenceAff15, Aff16
Pingault, VeroniqueAff61, Aff62
Piton, Amélie
Prieur, Fabienne
Putoux, AudreyAff19, Aff35
Planes, Marc
Odent, Sylvie
Quélin, Chloé
Quemener-Redon, SylviaAff5, Aff64, Aff65
Rama, Mélanie
Rio, Marlène
Rossi, MassimilianoAff19, Aff35
Schaefer, Elise
Rondeau, Sophie
Saugier-Veber, Pascale
Smol, ThomasAff16, Aff66
Sigaudy, Sabine
Touraine, Renaud
Mau-Them, Frederic TranAff29, Aff31
Trimouille, AurélienAff69, Aff70
Van Gils, Julien
Vanlerberghe, Clémence
Vantalon, Valérie
Vera, Gabriella
Vincent, MarieAff21, Aff22
Ziegler, Alban
Guillin, Olivier
Campion, Dominique
Charbonnier, CamilleAff72, IDs4143102301474x_cor98
DB Label
Database : Springer Nature Journals
원문보기
조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS 
2
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients 미리보기

학술저널

issue
European Journal of Human Genetics. 31(9):1023-1031
Author
Engel, CamilleAff1, IDs4143102301410z_cor1
Valence, Stéphanie
Delplancq, Geoffroy
Maroofian, Reza
Accogli, Andrea
Agolini, Emanuele
Alkuraya, Fowzan S.
Baglioni, Valentina
Bagnasco, Irene
Becmeur-Lefebvre, Mathilde
Bertini, Enrico
Borggraefe, Ingo
Brischoux-Boucher, Elise
Bruel, Ange-LineAff12, Aff13
Brusco, Alfredo
Bubshait, Dalal K.
Cabrol, Christelle
Cilio, Maria Roberta
Cornet, Marie-Coralie
Coubes, Christine
Danhaive, Olivier
Delague, Valérie
Denommé-Pichon, Anne-SophieAff12, Aff13
Di Giacomo, Marilena Carmela
Doco-Fenzy, MartineAff22, Aff23, Aff24
Engels, Hartmut
Cremer, Kirsten
Gérard, Marion
Gleeson, Joseph G.
Heron, Delphine
Goffeney, Joanna
Guimier, Anne
Harms, Frederike L.
Houlden, Henry
Iacomino, Michele
Kaiyrzhanov, Rauan
Kamien, Benjamin
Karimiani, Ehsan GhayoorAff34, Aff35
Kraus, DrorAff36, Aff37
Kuentz, PaulAff12, Aff38
Kutsche, Kerstin
Lederer, Damien
Massingham, Lauren
Mignot, CyrilAff41, Aff42
Morris-Rosendahl, DéborahAff43, Aff44
Nagarajan, LakshmiAff45, Aff46
Odent, Sylvie
Ormières, Clothilde
Partlow, Jennifer Neil
Pasquier, Laurent
Penney, Lynette
Philippe, ChristopheAff12, Aff13
Piccolo, Gianluca
Poulton, Cathryn
Putoux, AudreyAff51, Aff52
Rio, Marlène
Rougeot, Christelle
Salpietro, VincenzoAff3, Aff54, Aff55
Scheffer, IngridAff56, Aff57
Schneider, Amy
Srivastava, Siddharth
Straussberg, Rachel
Striano, PasqualeAff54, Aff55
Valente, Enza MariaAff59, Aff60
Venot, Perrine
Villard, LaurentAff20, Aff62
Vitobello, AntonioAff12, Aff13
Wagner, Johanna
Wagner, MatiasAff11, Aff63, Aff64
Zaki, Maha S.
Zara, FederizoAff54, Aff55
Lesca, GaetanAff51, Aff66
Yassaee, Vahid Reza
Miryounesi, Mohammad
Hashemi-Gorji, Farzad
Beiraghi, Mehran
Ashrafzadeh, Farah
Galehdari, Hamid
Walsh, Christopher
Novelli, Antonio
Tacke, Moritz
Sadykova, Dinara
Maidyrov, Yerdan
Koneev, Kairgali
Shashkin, Chingiz
Capra, Valeria
Zamani, Mina
Van Maldergem, Lionel
Burglen, Lydie
Piard, JulietteAff1, Aff12
DB Label
Database : Springer Nature Journals
원문보기
조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS 
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