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[카테고리:] 논문 (Publication)

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex

7월 28, 2026

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안 논문 (Publication)
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy

7월 28, 2026

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안 논문 (Publication)
Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan

7월 28, 2026

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안 논문 (Publication)
A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report

7월 28, 2026

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안 논문 (Publication)
Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report

7월 28, 2026

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안 논문 (Publication)
Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome

7월 28, 2026

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안 논문 (Publication)
Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders

7월 28, 2026

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Claire

안 논문 (Publication)
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

7월 28, 2026

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Claire

안 논문 (Publication)
Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis

7월 28, 2026

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안 논문 (Publication)
Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes

7월 28, 2026

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안 논문 (Publication)