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A Novel Coenzyme Q8A Mutation in a Case with Juvenile-Onset Coenzyme Q10D4: Case Report and Literature Review

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Dedeoğlu O

A Novel Hemizygous Mutation of HCFC1 Causes X-Linked Recessive Gene Inherited Developmental Delay in a Chinese Family

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Chen J

Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy

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Polani S

Two Novel Cases of Marfan Syndrome with FBN1 whole Gene Deletion: Laboratory Assay and Cases Review

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Spitalieri P

Mthfr c677t, Homocysteine and Risk of Splanchnic Vein Thrombosis: A Pooled Analysis of Published Epidemiological Studies

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Li SL

Journal of Genetic Mutation Disorders

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