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Neurology. Genetics

Showing results (691-700 of 842) with videos related to

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Neurology. Genetics|August 18, 2020
<i>LINS1</i>-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrumChristiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt, et al.
Neurology. Genetics|April 22, 2021
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E Schindler, Carlos Cruchaga, Amulya Joseph, et al.
Neurology. Genetics|June 26, 2020
Prevalence of <i>RFC1</i>-mediated spinocerebellar ataxia in a North American ataxia cohortDona Aboud Syriani, Darice Wong, Sameer Andani, et al.
Neurology. Genetics|November 22, 2019
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an <i>ELOVL4</i> mutationChangrui Xiao, Elaine M Binkley, Jessica Rexach, et al.
Neurology. Genetics|March 19, 2020
Association of a structural variant within the <i>SQSTM1</i> gene with amyotrophic lateral sclerosisJulia Pytte, Ryan S Anderton, Loren L Flynn, et al.
Neurology. Genetics|February 12, 2020
Analysis of common and rare <i>VPS13C</i> variants in late-onset Parkinson diseaseUladzislau Rudakou, Jennifer A Ruskey, Lynne Krohn, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Neurology. Genetics|February 12, 2020
Cerebral small vessel disease due to a unique heterozygous <i>HTRA1</i> mutation in an African manOlusegun John Oluwole, Heba Ibrahim, Debora Garozzo, et al.
Neurology. Genetics|February 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic <i>PIGP</i> mutationsAnnalisa Vetro, Tiziana Pisano, Silvia Chiaro, et al.
Neurology. Genetics|January 31, 2019
Duplication and deletion upstream of <i>LMNB1</i> in autosomal dominant adult-onset leukodystrophyNaomi Mezaki, Takeshi Miura, Kotaro Ogaki, et al.
Pageof 85

Showing results (691-700 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|August 18, 2020
<i>LINS1</i>-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrumChristiane M Neuhofer, Claudia B Catarino, Heinrich Schmidt, et al.
Neurology. Genetics|April 22, 2021
African Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E Schindler, Carlos Cruchaga, Amulya Joseph, et al.
Neurology. Genetics|June 26, 2020
Prevalence of <i>RFC1</i>-mediated spinocerebellar ataxia in a North American ataxia cohortDona Aboud Syriani, Darice Wong, Sameer Andani, et al.
Neurology. Genetics|November 22, 2019
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an <i>ELOVL4</i> mutationChangrui Xiao, Elaine M Binkley, Jessica Rexach, et al.
Neurology. Genetics|March 19, 2020
Association of a structural variant within the <i>SQSTM1</i> gene with amyotrophic lateral sclerosisJulia Pytte, Ryan S Anderton, Loren L Flynn, et al.
Neurology. Genetics|February 12, 2020
Analysis of common and rare <i>VPS13C</i> variants in late-onset Parkinson diseaseUladzislau Rudakou, Jennifer A Ruskey, Lynne Krohn, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Neurology. Genetics|February 12, 2020
Cerebral small vessel disease due to a unique heterozygous <i>HTRA1</i> mutation in an African manOlusegun John Oluwole, Heba Ibrahim, Debora Garozzo, et al.
Neurology. Genetics|February 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic <i>PIGP</i> mutationsAnnalisa Vetro, Tiziana Pisano, Silvia Chiaro, et al.
Neurology. Genetics|January 31, 2019
Duplication and deletion upstream of <i>LMNB1</i> in autosomal dominant adult-onset leukodystrophyNaomi Mezaki, Takeshi Miura, Kotaro Ogaki, et al.
Pageof 85