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Journal of Medical Genetics
|
June 11, 2020
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrum
Virginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.
Annals of Neurology
|
April 7, 2025
Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease
Qi-Ying Sun, Fu-Liang Tang, Yao Zhou, et al.
Clinical Genetics
|
October 21, 2021
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
Lin Yang, Zejun Wei, Xiang Chen, et al.
Brain : a Journal of Neurology
|
March 29, 2021
UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population
Yu-Wen Zhao, Hong-Xu Pan, Chun-Yu Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 31, 2014
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, et al.
Journal of Medical Genetics
|
September 9, 2018
Long-read sequencing identified intronic repeat expansions in <i>SAMD12</i> from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
Sheng Zeng, Mei-Yun Zhang, Xue-Jing Wang, et al.
TAG. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik
|
June 3, 2021
Genetic control and phenotypic characterization of panicle architecture and grain yield-related traits in foxtail millet (Setaria italica)
Hui Zhi, Qiang He, Sha Tang, et al.
American Journal of Human Genetics
|
May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
Ingo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
Annals of Neurology
|
August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia
Katherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.
Brain : a Journal of Neurology
|
November 29, 2011
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
Jun-Ling Wang, Li Cao, Xun-Hua Li, et al.
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of 45
Search research articles
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Showing results (401-410 of 449) with videos related to
Sort By:
Page
of 45
Journal of Medical Genetics
|
June 11, 2020
<i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrum
Virginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.
Annals of Neurology
|
April 7, 2025
Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease
Qi-Ying Sun, Fu-Liang Tang, Yao Zhou, et al.
Clinical Genetics
|
October 21, 2021
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
Lin Yang, Zejun Wei, Xiang Chen, et al.
Brain : a Journal of Neurology
|
March 29, 2021
UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population
Yu-Wen Zhao, Hong-Xu Pan, Chun-Yu Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 31, 2014
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, et al.
Journal of Medical Genetics
|
September 9, 2018
Long-read sequencing identified intronic repeat expansions in <i>SAMD12</i> from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy
Sheng Zeng, Mei-Yun Zhang, Xue-Jing Wang, et al.
TAG. Theoretical and Applied Genetics. Theoretische Und Angewandte Genetik
|
June 3, 2021
Genetic control and phenotypic characterization of panicle architecture and grain yield-related traits in foxtail millet (Setaria italica)
Hui Zhi, Qiang He, Sha Tang, et al.
American Journal of Human Genetics
|
May 21, 2019
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
Ingo Helbig, Tania Lopez-Hernandez, Oded Shor, et al.
Annals of Neurology
|
August 21, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia
Katherine L Helbig, Ulrike B S Hedrich, Deepali N Shinde, et al.
Brain : a Journal of Neurology
|
November 29, 2011
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
Jun-Ling Wang, Li Cao, Xun-Hua Li, et al.
Page
of 45