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European Journal of Human Genetics : EJHG|May 15, 2020
Predictive genetic testing in Huntington's disease: should a neurologist be involved?Mayke Oosterloo, Emilia K Bijlsma, Corien C Verschuuren-Bemelmans, et al.Parkinsonism & Related Disorders|April 12, 2020
Autosomal dominant GCH1 mutations causing spastic paraplegia at disease onsetTessa Wassenberg, Meyke I Schouten, Rick C Helmich, et al.Journal of Neurology|November 22, 2021
The complexities of CACNA1A in clinical neurogeneticsMarina P Hommersom, Teije H van Prooije, Maartje Pennings, et al.European Journal of Human Genetics : EJHG|May 12, 2016
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disordersBart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, et al.European Journal of Human Genetics : EJHG|May 12, 2026
EMQN Best Practice Guidelines for Genetic Testing and Reporting in RYR1-related disordersRachel L Robinson, Thatjana Gardeitchik, Meyke I Schouten, et al.Parkinsonism & Related Disorders|September 26, 2020
A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL geneKarlien Mul, Meyke I Schouten, Erica van der Looij, et al.European Journal of Human Genetics : EJHG|September 7, 2019
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegiaMaartje Pennings, Meyke I Schouten, Judith van Gaalen, et al.Journal of Neuromuscular Diseases|May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic ServiceDineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.Pageof 1