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Publications by JO Aasly

Mutational Spectrum of the CHAC Gene in Patients With Chorea-Acanthocytosis

European Journal of Human Genetics

English

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Phenotypic Variation in a Caucasian Kindred With Chorea-Acanthocytosis

Movement Disorders Clinical Practice

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Mutational Spectrum of the NKX2-5 Gene in Patients With Lone Atrial Fibrillation

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The Clinical and Mutational Spectrum of Turkish Patients With Cystinosis

Clinical Journal of the American Society of Nephrology

Transplantation

Intensive Care Medicine

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Cortico-Subthalamic Coherence in a Patient With Dystonia Induced by Chorea-Acanthocytosis: A Case Report

Frontiers in Human Neuroscience

Neuropsychology

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Behavioral Neuroscience

Biological Psychiatry

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271 Mutational Spectrum in 39 Spanish Patients With Hypohidrotic Ectodermal Dysplasia

Journal of Investigative Dermatology

Molecular Biology

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Mutational Spectrum of the ED1 Gene in X-Linked Hypohidrotic Ectodermal Dysplasia

European Journal of Human Genetics

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Mutational Analysis of the MECP2 Gene in Japanese Patients With Rett Syndrome

Journal of Human Genetics

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Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients With Rhizomelic Chondrodysplasia Punctata Type 1

American Journal of Human Genetics

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Mutational Analysis of the Tuberous Sclerosis Gene TSC2 in Patients With Pulmonary Lymphangioleiomyomatosis

Journal of Medical Genetics

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