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Neurology. Genetics

Showing results (811-820 of 842) with videos related to

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Neurology. Genetics|January 3, 2024
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B)Cendrine Foucard, Marie Belley, Aude Sangare, et al.
Neurology. Genetics|December 27, 2023
Somatic Mosaicism in <i>PIK3CA</i> Variant Correlates With Stereoelectroencephalography-Derived ElectrophysiologyH Westley Phillips, Alissa M D'Gama, Yilan Wang, et al.
Neurology. Genetics|December 27, 2023
<i>C9orf72</i> Repeat Expansion Discordance in 6 Multigenerational KindredsMarie Ryan, Mark A Doherty, Ahmad Al Khleifat, et al.
Neurology. Genetics|December 4, 2023
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research NetworkPeter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, et al.
Neurology. Genetics|November 30, 2023
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort StudyDouglas R Langbehn, Swati S Sathe, Clement Loy, et al.
Neurology. Genetics|November 30, 2023
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in <i>XPNPEP3</i>Ilan Ben-Shabat, Malin Kvarnung, Wolfgang Sperker, et al.
Neurology. Genetics|January 18, 2024
PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial MorphologyVibhuti Rambani, Miriam Kolnikova, Michal Cagalinec, et al.
Neurology. Genetics|January 18, 2024
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting <i>PCSK9</i> p.E32K and <i>RNF213</i> p.R4810K VariantsKotaro Noda, Yorito Hattori, Mika Hori, et al.
Neurology. Genetics|January 22, 2024
Machine Learning Models of Polygenic Risk for Enhanced Prediction of Alzheimer Disease EndophenotypesNathaniel B Gunter, Robel K Gebre, Jonathan Graff-Radford, et al.
Neurology. Genetics|January 19, 2024
<i>FOLR1</i> Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 YearsCarlo Manco, Rosa Cortese, Manfredi Alberti, et al.
Pageof 85

Showing results (811-820 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|January 3, 2024
Paroxysmal Ataxia: A Characteristic Feature of FGF14 Repeat Expansion (SCA27B)Cendrine Foucard, Marie Belley, Aude Sangare, et al.
Neurology. Genetics|December 27, 2023
Somatic Mosaicism in <i>PIK3CA</i> Variant Correlates With Stereoelectroencephalography-Derived ElectrophysiologyH Westley Phillips, Alissa M D'Gama, Yilan Wang, et al.
Neurology. Genetics|December 27, 2023
<i>C9orf72</i> Repeat Expansion Discordance in 6 Multigenerational KindredsMarie Ryan, Mark A Doherty, Ahmad Al Khleifat, et al.
Neurology. Genetics|December 4, 2023
Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research NetworkPeter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, et al.
Neurology. Genetics|November 30, 2023
A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort StudyDouglas R Langbehn, Swati S Sathe, Clement Loy, et al.
Neurology. Genetics|November 30, 2023
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in <i>XPNPEP3</i>Ilan Ben-Shabat, Malin Kvarnung, Wolfgang Sperker, et al.
Neurology. Genetics|January 18, 2024
PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial MorphologyVibhuti Rambani, Miriam Kolnikova, Michal Cagalinec, et al.
Neurology. Genetics|January 18, 2024
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting <i>PCSK9</i> p.E32K and <i>RNF213</i> p.R4810K VariantsKotaro Noda, Yorito Hattori, Mika Hori, et al.
Neurology. Genetics|January 22, 2024
Machine Learning Models of Polygenic Risk for Enhanced Prediction of Alzheimer Disease EndophenotypesNathaniel B Gunter, Robel K Gebre, Jonathan Graff-Radford, et al.
Neurology. Genetics|January 19, 2024
<i>FOLR1</i> Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 YearsCarlo Manco, Rosa Cortese, Manfredi Alberti, et al.
Pageof 85