Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jade Bouwmeester"'
Autor:
Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra, Berto J. Bouma, Marc-Phillip Hitz, Connie R. Bezzina, Gillian M. Blue, David S. Winlaw, Seema Mital
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
Abstract Background Congenital heart disease (CHD) is the most common congenital anomaly. Almost 90% of isolated cases have an unexplained genetic etiology after clinical testing. Non-canonical splice variants that disrupt mRNA splicing through the l
Externí odkaz:
https://doaj.org/article/1d371c4ddd2340898e94f229a04d496b
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy
Autor:
David Chiasson, Jade Bouwmeester, Seema Mital, Caroline Kinnear, Lisa C.A. D'Alessandro, Roderick Yao, Sandar Min, Fred W. Keeley
Publikováno v:
Circulation. Genomic and Precision Medicine
Supplemental Digital Content is available in the text.
Background: Elastin insufficiency causes recurrent vascular stenoses. Hemizygous deletion of the elastin gene (ELN) causes Williams-Beuren syndrome (WBS), while single nucleotide variants in
Background: Elastin insufficiency causes recurrent vascular stenoses. Hemizygous deletion of the elastin gene (ELN) causes Williams-Beuren syndrome (WBS), while single nucleotide variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba5125eb1c0d13eaa415d7c89f7022ba
https://pubmed.ncbi.nlm.nih.gov/32960096
https://pubmed.ncbi.nlm.nih.gov/32960096