Showing results (11-20 of 956) with videos related to
Sort By:
Pageof 96
Neurogenetics|November 19, 2013
Rare variants in LRRK1 and Parkinson's diseaseEva C Schulte, Daniel C Ellwanger, Sybille Dihanich, et al.Neurogenetics|September 7, 2014
Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathySenda Ajroud-Driss, Faisal Fecto, Kaouther Ajroud, et al.Neurogenetics|April 29, 2016
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathyRonen Spiegel, Avraham Shaag, Stavit Shalev, et al.Neurogenetics|June 17, 2016
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delaySimon Edvardson, Yael Elbaz-Alon, Chaim Jalas, et al.Neurogenetics|June 9, 2012
A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibilityHannah C Cox, Rod A Lea, Claire Bellis, et al.Neurogenetics|April 25, 2012
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2ASu-Yeon Park, So Yeon Kim, Yoon-Ho Hong, et al.Neurogenetics|April 25, 2012
TRPV4 mutations in children with congenital distal spinal muscular atrophyChiara Fiorillo, Francesca Moro, Giacomo Brisca, et al.Neurogenetics|September 19, 2015
Disruptions in a cluster of computationally identified enhancers near FOXC1 and GMDS may influence brain developmentGenevieve D E Haliburton, Gabriel L McKinsey, Katherine S PollardNeurogenetics|April 21, 2016
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defectsDavid B Beck, Megan T Cho, Francisca Millan, et al.Neurogenetics|December 3, 2015
Refining the phenotype associated with CASC5 mutationAbdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, et al.Pageof 96