Showing results (521-530 of 857) with videos related to
Sort By:
Pageof 86
Neurology. Genetics|October 21, 2016
Outdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassessLauren Bogue, Sindhu RamchandrenNeurology. Genetics|August 15, 2017
Brain calcifications and PCDH12 variantsGaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, et al.Neurology. Genetics|November 18, 2017
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystoniaAli S Shalash, Thomas W Rösler, Stefanie H Müller, et al.Neurology. Genetics|December 22, 2017
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypesMohammed Uddin, Marc Woodbury-Smith, Ada Chan, et al.Neurology. Genetics|December 22, 2017
NaV channel variants in patients with painful and nonpainful peripheral neuropathySamir Wadhawan, Saumya Pant, Ryan Golhar, et al.Neurology. Genetics|December 22, 2017
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiencyRabah Ben Yaou, Aurélie Hubert, Isabelle Nelson, et al.Neurology. Genetics|February 24, 2018
Duplications at 19q13.33 in patients with neurodevelopmental disordersEduardo Pérez-Palma, Elmo Saarentaus, Marie Ravoet, et al.Neurology. Genetics|February 24, 2018
CYP2C19 variant mitigates Alzheimer disease pathophysiology in vivo and postmortemAndréa L Benedet, Lei Yu, Aurélie Labbe, et al.Neurology. Genetics|December 12, 2018
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.Neurology. Genetics|December 12, 2018
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.Pageof 86