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Neurogenetics

Showing results (561-570 of 1,081) with videos related to

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Neurogenetics|November 21, 2001
Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's diseaseM Nicolaou, Y Q Song, C A Sato, et al.
Neurogenetics|November 21, 2001
ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1D Nolte, J Ramser, S Niemann, et al.
Neurogenetics|December 17, 2002
Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutationSimone Kraner, Jörn P Sieb, Peter N Thompson, et al.
Neurogenetics|July 8, 2003
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one familyAlejandro Leal, Corinna Berghoff, Martin Berghoff, et al.
Neurogenetics|November 20, 2019
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 familyR Palvadeau, Z E Kaya-Güleç, G Şimşir, et al.
Neurogenetics|December 21, 2017
The contribution of 7q33 copy number variations for intellectual disabilityFátima Lopes, Fátima Torres, Sally Ann Lynch, et al.
Neurogenetics|November 27, 2021
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
Neurogenetics|August 3, 2019
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic featuresBassam Abu-Libdeh, Motee Ashhab, Maher Shahrour, et al.
Neurogenetics|February 13, 2017
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defectMaher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, et al.
Neurogenetics|March 7, 2021
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variantIvana Dzinovic, Tereza Serranová, Clement Prouteau, et al.
Pageof 109

Showing results (561-570 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|November 21, 2001
Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's diseaseM Nicolaou, Y Q Song, C A Sato, et al.
Neurogenetics|November 21, 2001
ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1D Nolte, J Ramser, S Niemann, et al.
Neurogenetics|December 17, 2002
Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutationSimone Kraner, Jörn P Sieb, Peter N Thompson, et al.
Neurogenetics|July 8, 2003
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one familyAlejandro Leal, Corinna Berghoff, Martin Berghoff, et al.
Neurogenetics|November 20, 2019
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 familyR Palvadeau, Z E Kaya-Güleç, G Şimşir, et al.
Neurogenetics|December 21, 2017
The contribution of 7q33 copy number variations for intellectual disabilityFátima Lopes, Fátima Torres, Sally Ann Lynch, et al.
Neurogenetics|November 27, 2021
Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
Neurogenetics|August 3, 2019
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic featuresBassam Abu-Libdeh, Motee Ashhab, Maher Shahrour, et al.
Neurogenetics|February 13, 2017
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defectMaher Awni Shahrour, Claudia M Nicolae, Simon Edvardson, et al.
Neurogenetics|March 7, 2021
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variantIvana Dzinovic, Tereza Serranová, Clement Prouteau, et al.
Pageof 109