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Publications by K. Riney

PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

Internal Medicine

Molecular Biology

English

Related publications

Clinical and Molecular Characterization of a Severe Form of Partial Lipodystrophy Expanding the Phenotype of PPARγ Deficiency

Journal of Lipid Research

English

Mutations inRIT1cause Noonan Syndrome - Additional Functional Evidence and Expanding the Clinical Phenotype

Clinical Genetics

English

Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

Internal Medicine

Molecular Biology

English

Expanding the Phenotype Half of the Genotype−phenotype Space

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

Multidisciplinary

English

Expanding the Clinical Phenotype of the 3q29 Microdeletion Syndrome and Characterization of the Reciprocal Microduplication

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

Marshall-Smith Syndrome: The Expanding Phenotype.

Journal of Medical Genetics

English

Expanding the ADCY5 Phenotype Toward Spastic Paraparesis

Neurology: Genetics

English

Craniosynostosis and Syndactyly: Expanding the 11q-- Chromosomal Deletion Phenotype.

Journal of Medical Genetics

English

Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations

American Journal of Neuroradiology

Nuclear Medicine

English