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Mingyan Fang

Showing results (41-50 of 71) with videos related to

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Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
Frontiers in Immunology|August 28, 2020
Developing an Unbiased Multiplex PCR System to Enrich the <i>TRB</i> Repertoire Toward Accurate Detection in LeukemiaJinghua Wu, Xie Wang, Liya Lin, et al.
Frontiers in Physiology|November 8, 2021
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential <i>in vitro</i> Model for Rare Genetic DiseasesMaria Sofia Falzarano, Rachele Rossi, Andrea Grilli, et al.
Plos One|January 16, 2026
Genetic and clinical determinants of neonatal jaundice and growth patterns in the Qingdao birth cohort: A genome-wide association studyXu Chen, Peina Du, Shuo Li, et al.
Investigative Ophthalmology & Visual Science|February 22, 2020
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary CiliumCathrine Jespersgaard, Amalie Brunbjerg Hey, Tomas Ilginis, et al.
European Journal of Haematology|June 30, 2018
SMYD1 is the underlying gene for the AnWj-negative blood group phenotypeVered Yahalom, Nir Pillar, Yingying Zhao, et al.
Journal of Clinical Immunology|November 26, 2021
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation DefectsMingyan Fang, Zheng Su, Hassan Abolhassani, et al.
European Journal of Medical Genetics|March 1, 2015
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphologyAnja E Pen, Mette Nyegaard, Mingyan Fang, et al.
European Journal of Human Genetics : EJHG|September 4, 2014
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathyMichela Robusto, Mingyan Fang, Rosanna Asselta, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|January 14, 2026
Whole-genome sequencing reveals Yunnan as the crossroads of East and Southeast Asia for human gene flowXiaobo Qian, Bo Li, Jianmei Liu, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
Orphanet Journal of Rare Diseases|May 3, 2013
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantLaura Melchionda, Mingyan Fang, Hairong Wang, et al.
Frontiers in Immunology|August 28, 2020
Developing an Unbiased Multiplex PCR System to Enrich the <i>TRB</i> Repertoire Toward Accurate Detection in LeukemiaJinghua Wu, Xie Wang, Liya Lin, et al.
Frontiers in Physiology|November 8, 2021
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential <i>in vitro</i> Model for Rare Genetic DiseasesMaria Sofia Falzarano, Rachele Rossi, Andrea Grilli, et al.
Plos One|January 16, 2026
Genetic and clinical determinants of neonatal jaundice and growth patterns in the Qingdao birth cohort: A genome-wide association studyXu Chen, Peina Du, Shuo Li, et al.
Investigative Ophthalmology & Visual Science|February 22, 2020
A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary CiliumCathrine Jespersgaard, Amalie Brunbjerg Hey, Tomas Ilginis, et al.
European Journal of Haematology|June 30, 2018
SMYD1 is the underlying gene for the AnWj-negative blood group phenotypeVered Yahalom, Nir Pillar, Yingying Zhao, et al.
Journal of Clinical Immunology|November 26, 2021
T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation DefectsMingyan Fang, Zheng Su, Hassan Abolhassani, et al.
European Journal of Medical Genetics|March 1, 2015
A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphologyAnja E Pen, Mette Nyegaard, Mingyan Fang, et al.
European Journal of Human Genetics : EJHG|September 4, 2014
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathyMichela Robusto, Mingyan Fang, Rosanna Asselta, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|January 14, 2026
Whole-genome sequencing reveals Yunnan as the crossroads of East and Southeast Asia for human gene flowXiaobo Qian, Bo Li, Jianmei Liu, et al.
Pageof 8