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Clinical Genetics - ResearchHub

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Journal

Clinical Genetics

0009-9163 · Wiley

3 verified public works

Browse all journals →

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review

2026 · 0 citations

A De Novo ATP1A3 p. Arg995His Variant in a Patient With an Adult‐Onset Primary Lateral Sclerosis‐Like Syndrome

2026 · 0 citations

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

2026 · 0 citations

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