Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Chloe Whitton"'
Autor:
Fowzan S. Alkuraya, Eric J. Mallack, Ingrid M. Wentzensen, John Karl de Dios, Subhadra Ramanathan, Robin D. Clark, Alpa Sidhu, Mais Hashem, Valérie Cormier-Daire, Maya Chopra, Danita Velasco, Shenela Lakhani, Lois J. Starr, Emily Singh, Didier Lacombe, Karin Panzer, Chloe Whitton, Elizabeth E. Palmer, Vincent Michaud, Lance H. Rodan, Christoffer Nellåker
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩
We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the « HX motif » of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e85ad720e7cca36100e187737e9b77
https://pubmed.ncbi.nlm.nih.gov/34212383
https://pubmed.ncbi.nlm.nih.gov/34212383
Autor:
null Elizabeth E. Palmer, null Chloe Whitton, null Mais O. Hashem, null Robin D. Clark, null Subhadra Ramanathan, null Lois J. Starr, null Danita Velasco, null John Karl De Dios, null Emily Singh, null Valerie Cormier‐Daire, null Maya Chopra, null Lance H. Rodan, null Christoffer Nellaker, null Shenela Lakhani, null Eric J. Mallack, null Karin Panzer, null Alpa Sidhu, null Ingrid M. Wentzensen, null Didier Lacombe, null Vincent Michaud, null Fowzan S. Alkuraya
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af27e6355f3ad15f2dffd84397e8133c
https://doi.org/10.1111/cge.14022/v2/response1
https://doi.org/10.1111/cge.14022/v2/response1
