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Human Molecular Genetics
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October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
Yanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Nature Communications
|
December 31, 2024
SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations
Meng-Yuan Yang, Jia-Dong Zhong, Xin Li, et al.
American Journal of Human Genetics
|
September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Paweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG
|
June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
Gabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Human Mutation
|
March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
Gemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 24, 2018
Coding mutations in <i>NUS1</i> contribute to Parkinson's disease
Ji-Feng Guo, Lu Zhang, Kai Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 12, 2020
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China
Xiao-Jun Huang, Shi-Ge Wang, Xia-Nan Guo, et al.
American Journal of Human Genetics
|
February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
Simone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
Epilepsia
|
January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutations
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
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of 45
Search research articles
Search
Showing results (431-440 of 449) with videos related to
Sort By:
Page
of 45
Human Molecular Genetics
|
October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy
Yanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Nature Communications
|
December 31, 2024
SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations
Meng-Yuan Yang, Jia-Dong Zhong, Xin Li, et al.
American Journal of Human Genetics
|
September 26, 2017
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Paweł Stankiewicz, Tahir N Khan, Przemyslaw Szafranski, et al.
European Journal of Human Genetics : EJHG
|
June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
Gabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Human Mutation
|
March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
Gemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 24, 2018
Coding mutations in <i>NUS1</i> contribute to Parkinson's disease
Ji-Feng Guo, Lu Zhang, Kai Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2016
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
May 12, 2020
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China
Xiao-Jun Huang, Shi-Ge Wang, Xia-Nan Guo, et al.
American Journal of Human Genetics
|
February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
Simone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.
Epilepsia
|
January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutations
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
Page
of 45