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Publications by Patinut Buranasupkajorn

Loss-Of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes

Internal Medicine

English

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Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

Internal Medicine

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A C-Terminal Nonsense Mutation Links PTPRQ With Autosomal-Dominant Hearing Loss, DFNA73

Genetics in Medicine

English

a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

G3: Genes, Genomes, Genetics

Molecular Biology

English

A Novel Loss-Of-Function Mutation in HOXB1 Associated With Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Molecular Syndromology

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

Molecular Neuroscience

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Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family With Autosomal Dominant Pulverulent Cataract

Molecular Syndromology

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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Spanish Family With a Ser252Phe Mutation in the CHRNA4 Gene

Archives of Neurology

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Homozygosity of the Autosomal Dominant Alzheimer Disease Presenilin 1 E280A Mutation

English

Dystonia in a Patient With Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene

Movement Disorders Clinical Practice

English