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Mingyan Fang

Showing results (51-60 of 71) with videos related to

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Cell & Bioscience|March 6, 2019
Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the <i>Zfp644</i> mimic human disease phenotypeKatarzyna I Szczerkowska, Silvia Petrezselyova, Jiri Lindovsky, et al.
Human Molecular Genetics|July 13, 2016
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signallingElisa Gregianin, Giorgia Pallafacchina, Sofia Zanin, et al.
Blood|December 18, 2024
Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globinYong Long, Qianqian Zhang, Ling Ling, et al.
The Journal of Investigative Dermatology|March 23, 2013
Mutations in ABCB6 cause dyschromatosis universalis hereditariaCaie Zhang, Duanzhuo Li, Jianguo Zhang, et al.
Human Mutation|June 28, 2013
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset ParkinsonismMarialuisa Quadri, Mingyan Fang, Marina Picillo, et al.
Frontiers in Genetics|February 12, 2019
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani FamilyStefania Bigoni, Marcella Neri, Chiara Scotton, et al.
Cell Discovery|July 21, 2023
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplaySi Cheng, Zhe Xu, Shengzhe Bian, et al.
HGG Advances|January 20, 2022
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencingMaria S Falzarano, Andrea Grilli, Silvia Zia, et al.
Aging Cell|March 3, 2021
Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individualsXiaomin Liu, Zijun Song, Yan Li, et al.
The Journal of Allergy and Clinical Immunology|April 7, 2015
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiencyOmar K Alkhairy, Ruy Perez-Becker, Gertjan J Driessen, et al.
Pageof 8

Showing results (51-60 of 71) with videos related to

Sort By:
Pageof 8
Cell & Bioscience|March 6, 2019
Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the <i>Zfp644</i> mimic human disease phenotypeKatarzyna I Szczerkowska, Silvia Petrezselyova, Jiri Lindovsky, et al.
Human Molecular Genetics|July 13, 2016
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signallingElisa Gregianin, Giorgia Pallafacchina, Sofia Zanin, et al.
Blood|December 18, 2024
Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globinYong Long, Qianqian Zhang, Ling Ling, et al.
The Journal of Investigative Dermatology|March 23, 2013
Mutations in ABCB6 cause dyschromatosis universalis hereditariaCaie Zhang, Duanzhuo Li, Jianguo Zhang, et al.
Human Mutation|June 28, 2013
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset ParkinsonismMarialuisa Quadri, Mingyan Fang, Marina Picillo, et al.
Frontiers in Genetics|February 12, 2019
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani FamilyStefania Bigoni, Marcella Neri, Chiara Scotton, et al.
Cell Discovery|July 21, 2023
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplaySi Cheng, Zhe Xu, Shengzhe Bian, et al.
HGG Advances|January 20, 2022
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencingMaria S Falzarano, Andrea Grilli, Silvia Zia, et al.
Aging Cell|March 3, 2021
Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individualsXiaomin Liu, Zijun Song, Yan Li, et al.
The Journal of Allergy and Clinical Immunology|April 7, 2015
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiencyOmar K Alkhairy, Ruy Perez-Becker, Gertjan J Driessen, et al.
Pageof 8