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Publications by K Schmierer

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

English

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

International Journal of Medical Sciences

English

The Clinical and Mutational Spectrum of Turkish Patients With Cystinosis

Clinical Journal of the American Society of Nephrology

Transplantation

Intensive Care Medicine

English

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

Frontiers in Human Neuroscience

Neuropsychology

Physiological Psychology

Behavioral Neuroscience

Biological Psychiatry

English

271 Mutational Spectrum in 39 Spanish Patients With Hypohidrotic Ectodermal Dysplasia

Journal of Investigative Dermatology

Molecular Biology

English

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

English

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

English

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

Journal of Medical Genetics

English