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Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes
Published 2025-02-01“…Introduction Although genetic testing for hereditary cancers is increasing, data on health attitudes based on genetic pathogenicity are limited. …”
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Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
Published 2021-01-01“…Genes were selected through reference to databases including the Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), Genetic Home Reference, and the latest peer-reviewed publications on the genetics of hereditary cataracts. …”
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A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy
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Psychoeducational Characteristics of Children with Hypohidrotic Ectodermal Dysplasia
Published 2012-01-01“…Hypohidrotic ectodermal dysplasia (HED) is an X-linked hereditary disorder characterized by hypohidrosis, hypotrichosis, and anomalous dentition. …”
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