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Neurogenetics

Showing results (301-310 of 1,080) with videos related to

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Neurogenetics|December 3, 2021
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variantIvana Dzinovic, Tereza Serranová, Clement Prouteau, et al.
Neurogenetics|September 17, 2022
Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlationMiguel Tábuas-Pereira, Rita Guerreiro, Célia Kun-Rodrigues, et al.
Neurogenetics|January 11, 2022
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature reviewSalvatore Iacono, Elda Del Giudice, Alberta Leon, et al.
Neurogenetics|June 7, 2011
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-telShoaib ur Rehman, Shahid Mahmood Baig, Hans Eiberg, et al.
Neurogenetics|June 7, 2011
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophyJohn C Fyfe, Rabá A Al-Tamimi, Junlong Liu, et al.
Neurogenetics|July 13, 2011
Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weightSojeong Ka, Frank W Albert, D Michael Denbow, et al.
Neurogenetics|June 14, 2011
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in SardiniaMarialuisa Quadri, Giovanni Cossu, Valeria Saddi, et al.
Neurogenetics|January 9, 2015
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxiaKarine Choquet, Roberta La Piana, Bernard Brais
Neurogenetics|August 5, 2015
Mutations in ARID2 are associated with intellectual disabilitiesLinshan Shang, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|November 19, 2015
COMT Val 158 Met polymorphism is associated with nonverbal cognition following mild traumatic brain injuryEthan A Winkler, John K Yue, Thomas W McAllister, et al.
Pageof 108

Showing results (301-310 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|December 3, 2021
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variantIvana Dzinovic, Tereza Serranová, Clement Prouteau, et al.
Neurogenetics|September 17, 2022
Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlationMiguel Tábuas-Pereira, Rita Guerreiro, Célia Kun-Rodrigues, et al.
Neurogenetics|January 11, 2022
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature reviewSalvatore Iacono, Elda Del Giudice, Alberta Leon, et al.
Neurogenetics|June 7, 2011
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-telShoaib ur Rehman, Shahid Mahmood Baig, Hans Eiberg, et al.
Neurogenetics|June 7, 2011
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophyJohn C Fyfe, Rabá A Al-Tamimi, Junlong Liu, et al.
Neurogenetics|July 13, 2011
Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weightSojeong Ka, Frank W Albert, D Michael Denbow, et al.
Neurogenetics|June 14, 2011
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in SardiniaMarialuisa Quadri, Giovanni Cossu, Valeria Saddi, et al.
Neurogenetics|January 9, 2015
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxiaKarine Choquet, Roberta La Piana, Bernard Brais
Neurogenetics|August 5, 2015
Mutations in ARID2 are associated with intellectual disabilitiesLinshan Shang, Megan T Cho, Kyle Retterer, et al.
Neurogenetics|November 19, 2015
COMT Val 158 Met polymorphism is associated with nonverbal cognition following mild traumatic brain injuryEthan A Winkler, John K Yue, Thomas W McAllister, et al.
Pageof 108