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Neurology. Genetics|September 3, 2025
Study of Testosterone and Recombinant Human Growth Hormone in Facioscapulohumeral Muscular DystrophyChad Rydel Heatwole, Elizabeth Luebbe, Johanna Hamel, et al.
Neurology. Genetics|March 28, 2018
Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire G Salter, Danique Beijer, Holly Hardy, et al.
Neurology. Genetics|March 31, 2018
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signatureVincenzo Leuzzi, Daniela D'Agnano, Michele Menotta, et al.
Neurology. Genetics|March 31, 2018
Diagnostic odyssey of patients with mitochondrial disease: Results of a surveyJohnston Grier, Michio Hirano, Amel Karaa, et al.
Neurology. Genetics|February 9, 2018
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disordersGloria T Haskell, Michael C Adams, Zheng Fan, et al.
Neurology. Genetics|December 22, 2017
Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of geneticsMathieu Barbier, Agnès Camuzat, Marion Houot, et al.
Neurology. Genetics|September 29, 2017
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activitiesEwen W Sommerville, Charlotte L Alston, Angela Pyle, et al.
Neurology. Genetics|January 31, 2018
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, et al.
Neurology. Genetics|December 26, 2018
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulationImen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, et al.
Neurology. Genetics|December 26, 2018
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variantMaryam Sedghi, Mehri Salari, Ali-Reza Moslemi, et al.
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