[카테고리:] 논문 (Publication)

Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report

7월 2, 2024

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안 논문 (Publication)
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

7월 2, 2024

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안 논문 (Publication)
Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures

7월 2, 2024

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안 논문 (Publication)
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

7월 2, 2024

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안 논문 (Publication)
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families

7월 2, 2024

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안 논문 (Publication)
Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

7월 2, 2024

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안 논문 (Publication)
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)