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Human Genetics
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March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
Lina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
European Journal of Human Genetics : EJHG
|
June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
Matthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 12, 2016
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.
Scientific Reports
|
May 6, 2025
Mossy fiber expression of αSMA in human hippocampus and its relevance to brain evolution and neuronal development
Tian Tu, Xiao-Lu Cai, Zhong-Ping Sun, et al.
Cerebellum (London, England)
|
July 15, 2021
Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time
Yue Xie, Zhao Chen, Zhe Long, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 2, 2018
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.
TAG. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik
|
October 31, 2020
QTL mapping for foxtail millet plant height in multi-environment using an ultra-high density bin map
Qiang He, Hui Zhi, Sha Tang, et al.
Brain : a Journal of Neurology
|
November 26, 2010
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
Jun Ling Wang, Xu Yang, Kun Xia, et al.
Nature Medicine
|
January 19, 2021
Impaired meningeal lymphatic drainage in patients with idiopathic Parkinson's disease
Xue-Bing Ding, Xin-Xin Wang, Dan-Hao Xia, et al.
Frontiers in Aging Neuroscience
|
December 6, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population
Yu-Wen Zhao, Hong-Xu Pan, Zhenhua Liu, et al.
Page
of 45
Search research articles
Search
Showing results (391-400 of 449) with videos related to
Sort By:
Page
of 45
Human Genetics
|
March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
Lina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
European Journal of Human Genetics : EJHG
|
June 22, 2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
Matthis Synofzik, Katherine L Helbig, Florian Harmuth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 12, 2016
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.
Scientific Reports
|
May 6, 2025
Mossy fiber expression of αSMA in human hippocampus and its relevance to brain evolution and neuronal development
Tian Tu, Xiao-Lu Cai, Zhong-Ping Sun, et al.
Cerebellum (London, England)
|
July 15, 2021
Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time
Yue Xie, Zhao Chen, Zhe Long, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 2, 2018
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, et al.
TAG. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik
|
October 31, 2020
QTL mapping for foxtail millet plant height in multi-environment using an ultra-high density bin map
Qiang He, Hui Zhi, Sha Tang, et al.
Brain : a Journal of Neurology
|
November 26, 2010
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
Jun Ling Wang, Xu Yang, Kun Xia, et al.
Nature Medicine
|
January 19, 2021
Impaired meningeal lymphatic drainage in patients with idiopathic Parkinson's disease
Xue-Bing Ding, Xin-Xin Wang, Dan-Hao Xia, et al.
Frontiers in Aging Neuroscience
|
December 6, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population
Yu-Wen Zhao, Hong-Xu Pan, Zhenhua Liu, et al.
Page
of 45