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Publications by Sandy S. Sung

Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

American Journal of Human Genetics

English

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De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

English

Going From Genes to Proteins in Myelodysplastic Syndromes

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

Multidisciplinary

English

Fast-Twitch and Slow-Twitch/Cardiac Ca2+ ATPase Genes Map to Human Chromosomes 16 and 12

Somatic Cell and Molecular Genetics

English

Differential Effects of Peroxynitrite on Contractile Protein Properties in Fast- And Slow-Twitch Skeletal Muscle Fibers of Rat

Journal of Applied Physiology

English

Acetylcholine Receptor Δ Subunit Mutations Underlie a Fast-Channel Myasthenic Syndrome and Arthrogryposis Multiplex Congenita

Journal of Clinical Investigation

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Identification of Genes in Tn916 Encoding Membrane-Targeted Proteins

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Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

American Journal of Human Genetics

English

An Active Learning Mammalian Skeletal Muscle Lab Demonstrating Contractile and Kinetic Properties of Fast- And Slow-Twitch Muscle

American Journal of Physiology - Advances in Physiology Education

English

Distal Arthrogryposis Type IIB in a Girl: Autosomal Recessive Inheritance?

Japanese journal of human genetics

English