Risultati della ricerca - Go Hun Seo
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1
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
Pubblicazione 2025Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
2
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
Pubblicazione 2024Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
3
Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia‐Otocephaly Complex
Pubblicazione 2025Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
4
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration
Pubblicazione 2026Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
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Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome
Pubblicazione 2025Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso -
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Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
Pubblicazione 2025Fuente: Wiley Open AccessTipo de material: Artículo Open AccessAcceso al recurso