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Publications by Can Kosukcu

Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype With ESRD

Journal of the American Society of Nephrology : JASN

English

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Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

American Journal of Human Genetics

English

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

American Journal of Human Genetics

English

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy

American Journal of Human Genetics

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Propofol as a Cause of Recurrent Pancreatitis in a Child With ESRD; A Cautionary Tale

Indian Journal of Pediatrics

English

Null Mutations in the SNF3 Gene of Saccharomyces Cerevisiae Cause a Different Phenotype Than Do Previously Isolated Missense Mutations.

Molecular and Cellular Biology

Molecular Biology

English

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

Multidisciplinary

English

Mutations in MAGT1 Lead to a Glycosylation Disorder With a Variable Phenotype

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

Multidisciplinary

English

Nephronophthisis

European Journal of Human Genetics

English

RAD21 Mutations Cause a Human Cohesinopathy

American Journal of Human Genetics

English