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Publications by H. J. M. Smeets

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

Internal Medicine

Molecular Biology

English

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Two Novel Mutations of the CYP11B2 Gene in a Japanese Patient With Aldosterone Deficiency Type 1

Endocrine Journal

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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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Mutations in the Nebulin Gene Associated With Autosomal Recessive Nemaline Myopathy

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

Multidisciplinary

English

Mitochondrial Myopathy in Follow-Up of a Patient With Chronic Fatigue Syndrome

Journal of Investigative Medicine High Impact Case Reports

Safety Research

English

A Novel De Novo Dominant Mutation inISCUassociated With Mitochondrial Myopathy

Journal of Medical Genetics

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Three Novel Mutations in the Glycoprotein IIb Gene in a Patient With Type II Glanzmann Thrombasthenia

English

Manometrical Study of the Upper Esophagus in Two Cases With Mitochondrial Myopathy.

Nihon Kikan Shokudoka Gakkai Kaiho

English

Identification of Two Novel LAMA2 Mutations in a Chinese Patient With Congenital Muscular Dystrophy

Frontiers in Genetics

Molecular Medicine

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Novel Point Mutations in Mitochondrial 16S rRNA Gene of Chinese Hamster Cells.

Genes and Genetic Systems

Molecular Biology

English