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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

7월 2, 2024

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안 논문 (Publication)
Evaluation of users’ level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases

7월 2, 2024

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안 논문 (Publication)
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight

7월 2, 2024

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Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: A case report and review

7월 2, 2024

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안 논문 (Publication)
Phenotypic and Genetic Complexity in Pediatric Movement Disorders

7월 2, 2024

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안 논문 (Publication)
Undiagnosed disease program in South Africa: Results from first 100 exomes

7월 2, 2024

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PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans–Like Nystagmus

7월 2, 2024

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안 논문 (Publication)
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders

7월 2, 2024

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안 논문 (Publication)
Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-Mendelian Fashion

7월 2, 2024

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안 논문 (Publication)
Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14

7월 2, 2024

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안 논문 (Publication)