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Publications by Karen R Schmidt

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

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

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3q29 Microdeletion Syndrome

English

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome

English

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

Clinical Genetics

English

Marshall-Smith Syndrome: The Expanding Phenotype.

Journal of Medical Genetics

English

PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?

Internal Medicine

Molecular Biology

English

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

Journal of Lipid Research

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

11p15.4 Microduplication Syndrome

English

Expanding the Clinical and Mutational Spectrum of the Ehlers–Danlos Syndrome, Dermatosparaxis Type

Genetics in Medicine

English