Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jill Anne, Rosenfeld"'
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
Autor:
Grace Wing Shan, Kong, Ye, Cao, Jin, Huang, Kwun Yue, Cheng, Amber Nolen, Pursley, Jill Anne, Rosenfeld, Janice G, Edwards, Yiu Man, Chan, Sau Wai, Cheung, Tak Yeung, Leung, Kwong Wai, Choy
Publikováno v:
Prenatal diagnosis. 36(13)
The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenata
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0db6ed4dcbc8b58f4211fd455efdc48d
https://pubmed.ncbi.nlm.nih.gov/27859473
https://pubmed.ncbi.nlm.nih.gov/27859473