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Publications by Alan J Robinson

A Novel De Novo Dominant Mutation inISCUassociated With Mitochondrial Myopathy

Journal of Medical Genetics

English

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Mutation in the Novel Nuclear-Encoded Mitochondrial Protein CHCHD10 in a Family With Autosomal Dominant Mitochondrial Myopathy

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A Novel De Novo Dominant Mutation of NOTCH1 Gene in an Iranian Family With Non‐syndromic Congenital Heart Disease

Journal of Clinical Laboratory Analysis

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Clinical Biochemistry

Occupational Health

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GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

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A Novel De Novo Mutation in CEACAM16 Associated With Postlingual Hearing Impairment

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A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy

American Journal of Human Genetics

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Two Novel Mutations in the SLC25A4 Gene in a Patient With Mitochondrial Myopathy

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A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

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A Novel De Novo COL1A1 Mutation in a Thai Boy With Osteogenesis Imperfecta Born to Consanguineous Parents

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A Patient With a Novel Gene Mutation Leading to Autosomal Dominant Polycystic Kidney Disease

Clinical Journal of the American Society of Nephrology

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