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Neurogenetics

Showing results (901-910 of 949) with videos related to

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Neurogenetics|October 9, 2015
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol traffickingMaría Elena Rodríguez-García, Elena Martín-Hernández, Ana Martínez de Aragón, et al.
Neurogenetics|July 21, 2014
DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factorsEdward C Gilmore
Neurogenetics|August 30, 2017
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencingMichael Zech, Robert Jech, Matias Wagner, et al.
Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.
Neurogenetics|August 12, 2015
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian familyAnne Noreau, Roberta La Piana, Camille Marcoux, et al.
Neurogenetics|June 9, 2016
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermiaTiago A Mestre, Andreea Manole, Heather MacDonald, et al.
Neurogenetics|November 16, 2014
Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegiaEva López, Carlos Casasnovas, Javier Giménez, et al.
Neurogenetics|February 27, 2016
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxiaYi-Hong Shao, Karine Choquet, Roberta La Piana, et al.
Neurogenetics|December 24, 2014
Neurotrophin blood-based gene expression and social cognition analysis in patients with autism spectrum disorderMònica Segura, Carla Pedreño, Jordi Obiols, et al.
Neurogenetics|October 23, 2015
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndromeShazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, et al.
Pageof 95

Showing results (901-910 of 949) with videos related to

Sort By:
Pageof 95
Neurogenetics|October 9, 2015
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol traffickingMaría Elena Rodríguez-García, Elena Martín-Hernández, Ana Martínez de Aragón, et al.
Neurogenetics|July 21, 2014
DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factorsEdward C Gilmore
Neurogenetics|August 30, 2017
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencingMichael Zech, Robert Jech, Matias Wagner, et al.
Neurogenetics|November 19, 2015
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autismLinshan Shang, Lindsay B Henderson, Megan T Cho, et al.
Neurogenetics|August 12, 2015
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian familyAnne Noreau, Roberta La Piana, Camille Marcoux, et al.
Neurogenetics|June 9, 2016
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermiaTiago A Mestre, Andreea Manole, Heather MacDonald, et al.
Neurogenetics|November 16, 2014
Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegiaEva López, Carlos Casasnovas, Javier Giménez, et al.
Neurogenetics|February 27, 2016
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxiaYi-Hong Shao, Karine Choquet, Roberta La Piana, et al.
Neurogenetics|December 24, 2014
Neurotrophin blood-based gene expression and social cognition analysis in patients with autism spectrum disorderMònica Segura, Carla Pedreño, Jordi Obiols, et al.
Neurogenetics|October 23, 2015
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndromeShazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, et al.
Pageof 95