[카테고리:] 논문 (Publication)

Whole exome sequencing in Serbian patients with hereditary spastic paraplegia

7월 3, 2024

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제공

Yeonho Kang

안 논문 (Publication)
Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing

7월 3, 2024

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제공

Yeonho Kang

안 논문 (Publication)
Knockout mice with pituitary malformations help identify human cases of hypopituitarism

7월 3, 2024

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Yeonho Kang

안 논문 (Publication)
TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families

7월 3, 2024

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Yeonho Kang

안 논문 (Publication)
Clinical and molecular characteristics of Korean patients with Kabuki syndrome

7월 3, 2024

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제공

Yeonho Kang

안 논문 (Publication)
Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development

7월 2, 2024

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제공

cms3billion

안 논문 (Publication)
Disease-causing variant recommendation system for clinical genome interpretation with adjusted scores for artefactual variants

7월 2, 2024

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cms3billion

안 논문 (Publication)
Improving genetic diagnosis by disease‑specifc, ACMG/AMP variant interpretation guidelines for hearing loss

7월 2, 2024

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cms3billion

안 논문 (Publication)
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity

7월 2, 2024

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제공

cms3billion

안 논문 (Publication)
A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom

7월 2, 2024

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제공

cms3billion

안 논문 (Publication)