Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Rowdy P. P. Meijer"'
Autor:
Maartje Pennings, Rowdy P. P. Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg
Publikováno v:
European Journal of Human Genetics, 31, 6, pp. 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662
Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome sequencing is a routine test for these disorders. Despite the success rates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f31ede36885a44f2e2db895281d340
https://hdl.handle.net/2066/293778
https://hdl.handle.net/2066/293778
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
Autor:
Bart P G H, van der Sanden, Jordi, Corominas, Michelle, de Groot, Maartje, Pennings, Rowdy P P, Meijer, Nienke, Verbeek, Bart, van de Warrenburg, Meyke, Schouten, Helger G, Yntema, Lisenka E L M, Vissers, Erik-Jan, Kamsteeg, Christian, Gilissen
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(8)
Expansions of a subset of short tandem repeats (STRs) have been implicated in approximately 30 different human genetic disorders. Despite extensive application of exome sequencing (ES) in routine diagnostic genetic testing, STRs are not routinely ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e52314f43d37f9728bed2575052bd61a
https://pubmed.ncbi.nlm.nih.gov/33846582
https://pubmed.ncbi.nlm.nih.gov/33846582