Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Godelieve R F, Claes"'
Autor:
Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. W
Externí odkaz:
https://doaj.org/article/4c768b28545c4e9c80d7adf8d44f46ec
Autor:
Sophie L. V. M. Stroeks, Debby Hellebrekers, Godelieve R. F. Claes, Ingrid P. C. Krapels, Michiel H. T. M. Henkens, Maurits Sikking, Els K. Vanhoutte, Apollonia Helderman-van den Enden, Han G. Brunner, Arthur van den Wijngaard, Job A. J. Verdonschot
Publikováno v:
European Journal of Human Genetics.
It was previously suggested that increasing the number of genes on diagnostic gene panels could increase the genetic yield in patient with dilated cardiomyopathy (DCM). We explored the diagnostic and prognostic relevance of testing DCM patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7540c0d6d751132354f4c9fc0b02b8c9
https://doi.org/10.1038/s41431-023-01384-y
https://doi.org/10.1038/s41431-023-01384-y
Autor:
Sophie L V M, Stroeks, Debby M E I, Hellebrekers, Godelieve R F, Claes, Upasana, Tayal, Ingrid P C, Krapels, Els K, Vanhoutte, Arthur, van den Wijngaard, Michiel T H M, Henkens, James S, Ware, Stephane R B, Heymans, Han G, Brunner, Job A J, Verdonschot
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(11)
Accurate interpretation of variants detected in dilated cardiomyopathy (DCM) is crucial for patient care but has proven challenging. We applied a set of proposed refined American College of Medical Genetics and Genomics/Association for Molecular Path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e9ea9986a9e17881406cd1d837d0a7b
https://pubmed.ncbi.nlm.nih.gov/34194005
https://pubmed.ncbi.nlm.nih.gov/34194005