Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Margaret Helm"'
Autor:
James W. Wheless, Thierry Frebourg, Robert Olaso, Rosemarie Smith, Kelly Nori, François Lecoquierre, Delphine Héron, Roseline Caumes, Anne Boland, Ange-Line Bruel, Candy Kumps, Gaël Nicolas, Sarah Stewart, Sophie Rondeau, Diane Doummar, Marlène Rio, Giulia Barcia, Anne-Marie Guerrot, Gwenaël Le Guyader, Alexandra Afenjar, Sarah Vergult, Karine Poirier, Juliette Coursimault, Jennifer Morrison, Amy Kritzer, Anne-Sophie Alaix, Rebecca Hernan, Anne-Sophie Denommé-Pichon, Sabine Sigaudy, Christine Coubes, Pascale Saugier-Veber, Francisca Millan Zamora, Austin Larson, Michelle M. Morrow, Christine Poitou, Björn Menten, Mathilde Nizon, Thomas Smol, Elise Schaefer, Bénédicte Gérard, Charles Coutton, Salima El Chehadeh, Fanggeng Zou, Stéphanie Valence, Anita Shanmugham, Wendy K. Chung, Bert Callewaert, Christina Kresge, Arnold Munnich, Beth A. Pletcher, Laurence Faivre, Estelle Colin, Laurence Colleaux, Patricia G Wheeler, Annelies Dheedene, Frédéric Tran Mau-Them, Jean-François Deleuze, Claude Houdayer, Jeanne Amiel, Frédéric Bilan, Marine Tessarech, Bertrand Isidor, Guillaume Jouret, Cyril Mignot, Benjamin Cogné, Shuxi Liu, Boris Keren, Françoise Devillard, Catherine Schramm, Margaret Helm
Publikováno v:
Human Genetics
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩
International audience; Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d62d99917d3e3b78e73c61b6c495303
https://hal.science/hal-03820933
https://hal.science/hal-03820933
Autor:
Brenda W. Gillespie, Louis-Philippe Laurin, Dawn Zinsser, Richard Lafayette, Maddalena Marasa, Scott E. Wenderfer, Suzanne Vento, Caroline Poulton, Laura Barisoni, Jarcy Zee, Margaret Helmuth, Francesca Lugani, Margret Kamel, Peg Hill-Callahan, Stephen M. Hewitt, Laura H. Mariani, William E. Smoyer, Larry A. Greenbaum, Debbie S. Gipson, Bruce M. Robinson, Ali G. Gharavi, Lisa M. Guay-Woodford, Howard Trachtman
Publikováno v:
Contemporary Clinical Trials Communications, Vol 22, Iss , Pp 100749- (2021)
Background: High data quality is of crucial importance to the integrity of research projects. In the conduct of multi-center observational cohort studies with increasing types and quantities of data, maintaining data quality is challenging, with few
Externí odkaz:
https://doaj.org/article/d1973b61d7b54609afc7c0310d857eeb