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Neurology. Genetics
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May 9, 2025
Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Martin Krenn, Matias Wagner, Karin Trimmel, et al.
Neurology. Genetics
|
May 9, 2025
Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease
Yu-Wen Cheng, Chih-Hao Chen, Ya-Fang Chen, et al.
Neurology. Genetics
|
February 3, 2026
Functional Characterization of a De Novo <i>SCN2A</i> Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy
Anna Corradi, Antonella Riva, Bruno Sterlini, et al.
Neurology. Genetics
|
February 3, 2026
Expanding the Genetic Landscape of Congenital Insensitivity to Pain
Theeraphong Pho-Iam, Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, et al.
Neurology. Genetics
|
September 29, 2017
Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to <i>OPA1</i> mutations
David S Lynch, Samantha H Y Loh, Jasmine Harley, et al.
Neurology. Genetics
|
September 29, 2017
Children with 5'-end <i>NF1</i> gene mutations are more likely to have glioma
Corina Anastasaki, Stephanie M Morris, Feng Gao, et al.
Neurology. Genetics
|
October 5, 2017
Moderate blast exposure alters gene expression and levels of amyloid precursor protein
Jessica Gill, Ann Cashion, Nicole Osier, et al.
Neurology. Genetics
|
March 22, 2018
Whole-exome sequencing identifies mutations in <i>MYMK</i> in a mild form of Carey-Fineman-Ziter syndrome
Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, et al.
Neurology. Genetics
|
December 26, 2018
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
Sara L Pulit, Lu-Chen Weng, Patrick F McArdle, et al.
Neurology. Genetics
|
December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severity
Sasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Page
of 101
Search research articles
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Showing results (41-50 of 1,009) with videos related to
Sort By:
Page
of 101
Neurology. Genetics
|
May 9, 2025
Holistic Exome-Based Genetic Testing in Adults With Epilepsy
Martin Krenn, Matias Wagner, Karin Trimmel, et al.
Neurology. Genetics
|
May 9, 2025
Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease
Yu-Wen Cheng, Chih-Hao Chen, Ya-Fang Chen, et al.
Neurology. Genetics
|
February 3, 2026
Functional Characterization of a De Novo <i>SCN2A</i> Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy
Anna Corradi, Antonella Riva, Bruno Sterlini, et al.
Neurology. Genetics
|
February 3, 2026
Expanding the Genetic Landscape of Congenital Insensitivity to Pain
Theeraphong Pho-Iam, Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, et al.
Neurology. Genetics
|
September 29, 2017
Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to <i>OPA1</i> mutations
David S Lynch, Samantha H Y Loh, Jasmine Harley, et al.
Neurology. Genetics
|
September 29, 2017
Children with 5'-end <i>NF1</i> gene mutations are more likely to have glioma
Corina Anastasaki, Stephanie M Morris, Feng Gao, et al.
Neurology. Genetics
|
October 5, 2017
Moderate blast exposure alters gene expression and levels of amyloid precursor protein
Jessica Gill, Ann Cashion, Nicole Osier, et al.
Neurology. Genetics
|
March 22, 2018
Whole-exome sequencing identifies mutations in <i>MYMK</i> in a mild form of Carey-Fineman-Ziter syndrome
Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, et al.
Neurology. Genetics
|
December 26, 2018
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
Sara L Pulit, Lu-Chen Weng, Patrick F McArdle, et al.
Neurology. Genetics
|
December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severity
Sasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Page
of 101