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Neurology. Genetics

Showing results (621-630 of 842) with videos related to

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Neurology. Genetics|September 29, 2017
De novo <i>CTBP1</i> variant is associated with decreased mitochondrial respiratory chain activitiesEwen W Sommerville, Charlotte L Alston, Angela Pyle, et al.
Neurology. Genetics|January 31, 2018
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, et al.
Neurology. Genetics|December 26, 2018
Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulationImen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, et al.
Neurology. Genetics|December 26, 2018
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a <i>MRE11</i> variantMaryam Sedghi, Mehri Salari, Ali-Reza Moslemi, et al.
Neurology. Genetics|May 7, 2021
Erratum: African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
Neurology. Genetics|April 30, 2021
Biallelic <i>DAB1</i> Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J Smits, Rachel Schot, Martina Wilke, et al.
Neurology. Genetics|May 21, 2021
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher DiseaseLais M Oliveira, Tara Rastin, Graeme A M Nimmo, et al.
Neurology. Genetics|September 17, 2021
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer DiseaseZachary F Gerring, Eric R Gamazon, Anthony White, et al.
Neurology. Genetics|April 28, 2020
Use of local genetic ancestry to assess <i>TOMM40</i>-523' and risk for Alzheimer diseaseParker L Bussies, Farid Rajabli, Anthony Griswold, et al.
Neurology. Genetics|April 28, 2020
Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphismMaria Empar Blanco-Cantó, Nikiben Patel, Sergio Velasco-Aviles, et al.
Pageof 85

Showing results (621-630 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|September 29, 2017
De novo <i>CTBP1</i> variant is associated with decreased mitochondrial respiratory chain activitiesEwen W Sommerville, Charlotte L Alston, Angela Pyle, et al.
Neurology. Genetics|January 31, 2018
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, et al.
Neurology. Genetics|December 26, 2018
Mutation in <i>POLR3K</i> causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulationImen Dorboz, Hélene Dumay-Odelot, Karima Boussaid, et al.
Neurology. Genetics|December 26, 2018
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a <i>MRE11</i> variantMaryam Sedghi, Mehri Salari, Ali-Reza Moslemi, et al.
Neurology. Genetics|May 7, 2021
Erratum: African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic Variants
Neurology. Genetics|April 30, 2021
Biallelic <i>DAB1</i> Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J Smits, Rachel Schot, Martina Wilke, et al.
Neurology. Genetics|May 21, 2021
Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher DiseaseLais M Oliveira, Tara Rastin, Graeme A M Nimmo, et al.
Neurology. Genetics|September 17, 2021
Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer DiseaseZachary F Gerring, Eric R Gamazon, Anthony White, et al.
Neurology. Genetics|April 28, 2020
Use of local genetic ancestry to assess <i>TOMM40</i>-523' and risk for Alzheimer diseaseParker L Bussies, Farid Rajabli, Anthony Griswold, et al.
Neurology. Genetics|April 28, 2020
Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphismMaria Empar Blanco-Cantó, Nikiben Patel, Sergio Velasco-Aviles, et al.
Pageof 85