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pro vyhledávání: '"Constanze T, Stumpel"'
Autor:
Jorge Luis, Granadillo, Alexander, P A Stegmann, Hui, Guo, Kun, Xia, Brad, Angle, Kelly, Bontempo, Judith D, Ranells, Patricia, Newkirk, Carrie, Costin, Joleen, Viront, Constanze T, Stumpel, Margje, Sinnema, Bianca, Panis, Rolph, Pfundt, Ingrid P C, Krapels, Merel, Klaassens, Joost, Nicolai, Jinliang, Li, Yuwu, Jiang, Elysa, Marco, Ana, Canton, Ana Claudia, Latronico, Luciana, Montenegro, Bruno, Leheup, Celine, Bonnet, Shivarajan, M Amudhavalli, Caitlin E, Lawson, Kirsty, McWalter, Aida, Telegrafi, Richard, Pearson, Malin, Kvarnung, Xia, Wang, Weimin, Bi, Jill Anne, Rosenfeld, Marwan, Shinawi
Publikováno v:
Journal of medical genetics. 57(10)
Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes.Clinical and molecular characterisation was performed on 17 patients withClinical findings included DD/I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3b19b66a4c1130bf9b46f2c12e8294dd
https://pubmed.ncbi.nlm.nih.gov/32152250
https://pubmed.ncbi.nlm.nih.gov/32152250
