Search Results - "Hoang, Thu Lan"
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Genetic analyses of Vietnamese patients with oculocutaneous albinism
Published in Journal of clinical laboratory analysis (01-09-2022)“…Background Oculocutaneous albinism (OCA) is an autosomal recessive disease with hypopigmentation in skin, hair, and eyes, causing by the complete absence or…”
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A procedure to detect 6 basic STSs and 11 extended STSs in the AZF region using multiplex PCR
Published in Vietnam Journal of Science, Technology and Engineering (01-03-2022)“…Microdeletions of Y chromosomes frequently occur in 3 subregions of the AZF, namely, AZFa, AZFb, and AZFc, with 6 basic STS marker sequences, which are sY84,…”
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A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report
Published in BMC musculoskeletal disorders (07-04-2020)“…Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the…”
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Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing
Published in Molecular genetics & genomic medicine (01-08-2021)“…Background Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma‐induced subepidermal blisters…”
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