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Pathogenicity and molecular characterization of infectious bursal disease virus in China
Published 2022-01-01Subjects: Get full text
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Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family
Published 2024-09-01Subjects: Get full text
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Mucosal and skin pigmentation with abnormal nails
Published 2024-06-01Subjects: Get full text
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A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants
Published 2024-08-01Subjects: “…Novel variant…”
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Identification of a novel ALK variant intrinsically resistant to crizotinib
Published 2020-12-01Subjects: Get full text
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Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant
Published 2025-03-01Subjects: Get full text
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Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China
Published 2021-03-01Subjects: Get full text
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A case of late-onset dopa-responsive isolated dystonia secondary to a novel tyrosine hydroxylase gene variant
Published 2020-01-01Subjects: Get full text
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Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss
Published 2018-01-01Subjects: Get full text
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A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review
Published 2022-06-01Subjects: Get full text
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Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia
Published 2023-01-01Subjects: Get full text
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The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region
Published 2021-09-01Subjects: Get full text
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Screening of MC4R, LEP, LEPR, POMC, SH2B1, and SIM1 genes in Turkish children with severe early-onset obesity
Published 2021-06-01Subjects: Get full text
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Novel variant infectious bursal disease virus suppresses Newcastle disease vaccination in broiler and layer chickens
Published 2020-12-01Subjects: “…novel variant infectious bursal disease virus…”
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A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome
Published 2024-09-01Subjects: Get full text
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A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report
Published 2025-03-01Subjects: Get full text
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Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novel CTCF variants
Published 2023-08-01Subjects: Get full text
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