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Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene

7월 2, 2024

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안 논문 (Publication)
A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems

7월 2, 2024

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안 논문 (Publication)
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

7월 2, 2024

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안 논문 (Publication)
Genetic heterogeneity of cardiomyopathy and its correlation with patient care

7월 2, 2024

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안 논문 (Publication)
Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea

7월 2, 2024

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안 논문 (Publication)
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

7월 2, 2024

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안 논문 (Publication)
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review

7월 2, 2024

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안 논문 (Publication)
Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability

7월 2, 2024

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안 논문 (Publication)
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy

7월 2, 2024

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안 논문 (Publication)
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application

7월 2, 2024

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안 논문 (Publication)