[카테고리:] 논문 (Publication)

Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea

10월 31, 2024

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안 논문 (Publication)
The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report

10월 8, 2024

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안 논문 (Publication)
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

10월 8, 2024

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안 논문 (Publication)
Genetic Investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss

10월 8, 2024

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안 논문 (Publication)
Clinical and Neuroradiological spectrum of Biallelic Variants in NOTCH3

10월 8, 2024

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안 논문 (Publication)
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

8월 26, 2024

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안 논문 (Publication)
ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review

8월 1, 2024

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안 논문 (Publication)
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

8월 1, 2024

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안 논문 (Publication)
High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients

7월 31, 2024

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Yeonho Kang

안 논문 (Publication)
Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

7월 22, 2024

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안 논문 (Publication)