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Neurogenetics

Showing results (11-20 of 1,080) with videos related to

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Neurogenetics|December 31, 2013
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican familiesLizbeth E García-Velázquez, Samuel Canizales-Quinteros, Sandra Romero-Hidalgo, et al.
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 Pollard
Neurogenetics|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.
Pageof 108

Showing results (11-20 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|December 31, 2013
Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican familiesLizbeth E García-Velázquez, Samuel Canizales-Quinteros, Sandra Romero-Hidalgo, et al.
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 Pollard
Neurogenetics|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.
Pageof 108