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Nature Genetics|April 16, 1998
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophyC Minetti, F Sotgia, C Bruno, et al.
Acta Neurologica Scandinavica|January 25, 2018
Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15)S Matricardi, F Darra, A Spalice, et al.
Epilepsia|December 28, 1999
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1E Gennaro, M Malacarne, I Carbone, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 1, 2019
Clinical and genetic spectrum of SCN2A-associated episodic ataxiaN Schwarz, T Bast, E Gaily, et al.
Neurology|October 20, 2010
Pontocerebellar hypoplasia: clinical, pathologic, and genetic studiesD Cassandrini, R Biancheri, A Tessa, et al.
Brain : a Journal of Neurology|May 11, 2006
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutationsE Parrini, A Ramazzotti, W B Dobyns, et al.
Epilepsy Research|February 16, 2010
Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysisC G F de Kovel, D Pinto, U Tauer, et al.
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