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Publications by Shiva Rezaei

Novel and Heteroplasmic Mutations in Mitochondrial tRNA Genes in Brugada Syndrome

Cardiology Journal

Cardiovascular Medicine

English

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MERRF/MELAS Overlap Syndrome: A Double Pathogenic Mutation in Mitochondrial tRNA Genes

Journal of Medical Genetics

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Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

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Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American Journal of Human Genetics

English

Mutations in Mitochondrial Histidyl tRNA Synthetase HARS2 Cause Ovarian Dysgenesis and Sensorineural Hearing Loss of Perrault Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

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Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient With Alagille Syndrome

Case Reports in Pediatrics

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Four Novel Thymidine Phosphorylase Gene Mutations in Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (MNGIE) Patients

European Journal of Human Genetics

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Analysis of Heteroplasmic Variants in the Cardiac Mitochondrial Genome of Individuals With Down Syndrome

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Mutations in the Mitochondrial Tryptophanyl‐tRNA Synthetase Cause Growth Retardation and Progressive Leukoencephalopathy

Molecular genetics & genomic medicine

Molecular Biology

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Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

Neuropediatrics

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