Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jessica Bolduc"'
Autor:
Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene. This mutation results in a tissue-specific reduction of ELP1 protein, wit
Externí odkaz:
https://doaj.org/article/49c0caa0e9b74228a74623d46ebdae00
Autor:
Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-1 (2024)
Externí odkaz:
https://doaj.org/article/246c128b7d694e8c9750797691095648
Autor:
Micaela Lasser, Jessica Bolduc, Luke Murphy, Caroline O'Brien, Sangmook Lee, Santhosh Girirajan, Laura Anne Lowery
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://doaj.org/article/5c5eb50256d544b88350b791cab466e7
Autor:
Micaela, Lasser, Jessica, Bolduc, Luke, Murphy, Caroline, O'Brien, Sangmook, Lee, Santhosh, Girirajan, Laura Anne, Lowery
Publikováno v:
Frontiers in genetics. 13
Copy number variants (CNVs) associated with neurodevelopmental disorders are characterized by extensive phenotypic heterogeneity. In particular, one CNV was identified in a subset of children clinically diagnosed with intellectual disabilities (ID) t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b59dab21fbabaf60ceb8049cc031ac2e
https://pubmed.ncbi.nlm.nih.gov/35401697
https://pubmed.ncbi.nlm.nih.gov/35401697