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Linyan Meng

Showing results (21-30 of 42) with videos related to

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Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|September 29, 2025
Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar AtrophyNuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, et al.
Human Mutation|November 8, 2019
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegiaShen Gu, Chun-An Chen, Jill A Rosenfeld, et al.
Genome Medicine|July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingYe Cao, Mari J Tokita, Edward S Chen, et al.
Diabetes Care|December 19, 2015
Intranasal Glucagon for Treatment of Insulin-Induced Hypoglycemia in Adults With Type 1 Diabetes: A Randomized Crossover Noninferiority StudyMichael R Rickels, Katrina J Ruedy, Nicole C Foster, et al.
Diabetes Care|February 18, 2016
Glucagon Nasal Powder: A Promising Alternative to Intramuscular Glucagon in Youth With Type 1 DiabetesJennifer L Sherr, Katrina J Ruedy, Nicole C Foster, et al.
NEJM AI|July 4, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian DisordersDongxue Mao, Chaozhong Liu, Linhua Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|September 29, 2025
Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar AtrophyNuermila Yiliyaer, Xiaocheng Li, Tianyu Guo, et al.
Human Mutation|November 8, 2019
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegiaShen Gu, Chun-An Chen, Jill A Rosenfeld, et al.
Genome Medicine|July 28, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencingYe Cao, Mari J Tokita, Edward S Chen, et al.
Diabetes Care|December 19, 2015
Intranasal Glucagon for Treatment of Insulin-Induced Hypoglycemia in Adults With Type 1 Diabetes: A Randomized Crossover Noninferiority StudyMichael R Rickels, Katrina J Ruedy, Nicole C Foster, et al.
Diabetes Care|February 18, 2016
Glucagon Nasal Powder: A Promising Alternative to Intramuscular Glucagon in Youth With Type 1 DiabetesJennifer L Sherr, Katrina J Ruedy, Nicole C Foster, et al.
NEJM AI|July 4, 2024
AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian DisordersDongxue Mao, Chaozhong Liu, Linhua Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 27, 2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencingYanming Feng, Xiaoyan Ge, Linyan Meng, et al.
Genome Medicine|September 30, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorderElizabeth A Normand, Alicia Braxton, Salma Nassef, et al.
NPJ Genomic Medicine|April 9, 2022
Best practices for the interpretation and reporting of clinical whole genome sequencingChristina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Pageof 5