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Human Molecular Genetics
|
January 20, 2018
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene
Xiao-Meng Yin, Jing-Han Lin, Li Cao, et al.
Genome Medicine
|
March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Dennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Genome Medicine
|
January 8, 2016
POGZ truncating alleles cause syndromic intellectual disability
Janson White, Christine R Beck, Tamar Harel, et al.
Translational Neurodegeneration
|
August 5, 2020
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study
Hong-Xu Pan, Yu-Wen Zhao, Jun-Pu Mei, et al.
Nature Genetics
|
November 30, 2023
Pangenome analysis reveals genomic variations associated with domestication traits in broomcorn millet
Jinfeng Chen, Yang Liu, Minxuan Liu, et al.
American Journal of Human Genetics
|
July 16, 2019
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, et al.
American Journal of Human Genetics
|
June 11, 2019
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Yun Tian, Jun-Ling Wang, Wen Huang, et al.
Nature Genetics
|
June 8, 2023
A graph-based genome and pan-genome variation of the model plant Setaria
Qiang He, Sha Tang, Hui Zhi, et al.
Journal of Medical Genetics
|
July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 2, 2022
Sensitivity of Sniffer Dogs for a Diagnosis of Parkinson's Disease: A Diagnostic Accuracy Study
Chang-Qing Gao, Shan-Ni Wang, Mei-Mei Wang, et al.
Page
of 45
Search research articles
Search
Showing results (421-430 of 449) with videos related to
Sort By:
Page
of 45
Human Molecular Genetics
|
January 20, 2018
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene
Xiao-Meng Yin, Jing-Han Lin, Li Cao, et al.
Genome Medicine
|
March 19, 2020
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Dennis Lal, Patrick May, Eduardo Perez-Palma, et al.
Genome Medicine
|
January 8, 2016
POGZ truncating alleles cause syndromic intellectual disability
Janson White, Christine R Beck, Tamar Harel, et al.
Translational Neurodegeneration
|
August 5, 2020
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study
Hong-Xu Pan, Yu-Wen Zhao, Jun-Pu Mei, et al.
Nature Genetics
|
November 30, 2023
Pangenome analysis reveals genomic variations associated with domestication traits in broomcorn millet
Jinfeng Chen, Yang Liu, Minxuan Liu, et al.
American Journal of Human Genetics
|
July 16, 2019
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, et al.
American Journal of Human Genetics
|
June 11, 2019
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Yun Tian, Jun-Ling Wang, Wen Huang, et al.
Nature Genetics
|
June 8, 2023
A graph-based genome and pan-genome variation of the model plant Setaria
Qiang He, Sha Tang, Hui Zhi, et al.
Journal of Medical Genetics
|
July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 2, 2022
Sensitivity of Sniffer Dogs for a Diagnosis of Parkinson's Disease: A Diagnostic Accuracy Study
Chang-Qing Gao, Shan-Ni Wang, Mei-Mei Wang, et al.
Page
of 45