about
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingMutation in the SYNJ1 gene associated with autosomal recessive, early-onset ParkinsonismMutations in ABCB6 cause dyschromatosis universalis hereditariaSearch for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantHomozygous GNAL mutation associated with familial childhood-onset generalized dystonia.Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiencyNovel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.Spectrum of Phenotypes Associated with Mutations in LRBA.Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.Lessons from whole-exome sequencing in MODYX familiesClinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiencyMolecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophyHomozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani FamilyMyopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of the mimic human disease phenotypeSMYD1 is the underlying gene for the AnWj-negative blood group phenotypeNoncoding RNA transcription alters chromosomal topology to promote isotype-specific class switch recombinationA Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary CiliumClinical implications of experimental analyses of AID function on predictive computational tools: Challenge of missense variantsATPase domain AFG3L2 mutations alter OPA1 processing and cause Optic NeuropathyCompound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic DiagnosisThe novel HLA-C*08:80 allele identified by full-length sequencing of the HLA regionT cell receptor β repertoires as novel diagnostic markers for systemic lupus erythematosus and rheumatoid arthritisT-cell receptor repertoire data provides new evidence for hygiene hypothesis of allergic diseasesJanus kinase inhibition in complement component 1 deficiency
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Mingyan Fang
@ast
Mingyan Fang
@en
Mingyan Fang
@es
Mingyan Fang
@nl
type
label
Mingyan Fang
@ast
Mingyan Fang
@en
Mingyan Fang
@es
Mingyan Fang
@nl
altLabel
Fang M
@en
prefLabel
Mingyan Fang
@ast
Mingyan Fang
@en
Mingyan Fang
@es
Mingyan Fang
@nl
P106
P108
P31
P496
0000-0001-7185-6445