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Neurogenetics

Showing results (851-860 of 949) with videos related to

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Neurogenetics|October 11, 2017
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotoniaLorenzo Maggi, Sabrina Ravaglia, Alessandro Farinato, et al.
Neurogenetics|October 28, 2019
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansionAndoni Echaniz-Laguna, Jean-Marie Cuisset, Lucie Guyant-Marechal, et al.
Neurogenetics|November 20, 2017
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorderAnthony J Griswold, Derek Van Booven, Michael L Cuccaro, et al.
Neurogenetics|December 14, 2019
Customized multigene panels in epilepsy: the best things come in small packagesSimona Pellacani, Claudia Dosi, Giulia Valvo, et al.
Neurogenetics|January 20, 2018
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growthPirjo Isohanni, Christopher J Carroll, Christopher B Jackson, et al.
Neurogenetics|February 4, 2018
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codonMarion Masingue, Jimmy Perrot, Robert-Yves Carlier, et al.
Neurogenetics|January 8, 2021
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCRDeborah L Stabley, Jennifer Holbrook, Mena Scavina, et al.
Neurogenetics|January 8, 2021
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variantIdriss Bousquet, Muriel Bozon, Valérie Castellani, et al.
Neurogenetics|February 21, 2020
Familial analysis reveals rare risk variants for migraine in regulatory regionsTanya Ramdal Techlo, Andreas Høiberg Rasmussen, Peter L Møller, et al.
Neurogenetics|July 5, 2022
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PETArmand Hocquel, Jean-Marie Ravel, Laetitia Lambert, et al.
Pageof 95

Showing results (851-860 of 949) with videos related to

Sort By:
Pageof 95
Neurogenetics|October 11, 2017
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotoniaLorenzo Maggi, Sabrina Ravaglia, Alessandro Farinato, et al.
Neurogenetics|October 28, 2019
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansionAndoni Echaniz-Laguna, Jean-Marie Cuisset, Lucie Guyant-Marechal, et al.
Neurogenetics|November 20, 2017
Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorderAnthony J Griswold, Derek Van Booven, Michael L Cuccaro, et al.
Neurogenetics|December 14, 2019
Customized multigene panels in epilepsy: the best things come in small packagesSimona Pellacani, Claudia Dosi, Giulia Valvo, et al.
Neurogenetics|January 20, 2018
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growthPirjo Isohanni, Christopher J Carroll, Christopher B Jackson, et al.
Neurogenetics|February 4, 2018
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codonMarion Masingue, Jimmy Perrot, Robert-Yves Carlier, et al.
Neurogenetics|January 8, 2021
Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCRDeborah L Stabley, Jennifer Holbrook, Mena Scavina, et al.
Neurogenetics|January 8, 2021
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variantIdriss Bousquet, Muriel Bozon, Valérie Castellani, et al.
Neurogenetics|February 21, 2020
Familial analysis reveals rare risk variants for migraine in regulatory regionsTanya Ramdal Techlo, Andreas Høiberg Rasmussen, Peter L Møller, et al.
Neurogenetics|July 5, 2022
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PETArmand Hocquel, Jean-Marie Ravel, Laetitia Lambert, et al.
Pageof 95