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Publications by Marjorie J. Lindhurst

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

American Journal of Human Genetics

English

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Encephalocraniocutaneous Lipomatosis: Case Report

Gaceta Medica de Mexico

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Eye and Appearance Characteristics of Encephalocraniocutaneous Lipomatosis

Sensory Systems

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Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

American Journal of Human Genetics

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Mosaic Activating RAS Mutations in Nevus Sebaceus and Nevus Sebaceus Syndrome

Journal of Investigative Dermatology

Molecular Biology

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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

American Journal of Human Genetics

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Activating Mutations in PAK1, Encoding P21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

American Journal of Human Genetics

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Dnr1 Mutations Cause Neurodegeneration in Drosophila by Activating the Innate Immune Response in the Brain

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

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Activating Mutations in Stim1 and Orai1 Cause Overlapping Syndromes of Tubular Aggregate Myopathy and Congenital Miosis

Journal of Neurology, Neurosurgery and Psychiatry

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Somatic PIK3CA Mutations Are Present in Multiple Tissues of Facial Infiltrating Lipomatosis

Pediatric Research

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