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Publications by B. Schnabl

X-Linked Cholestasis in Mouse Due to Mutations of the P4-ATPase ATP11C

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

Multidisciplinary

English

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X-Linked Sideroblastic Anemia Due to ALAS2 Intron 1 Enhancer Element GATA-binding Site Mutations

American Journal of Hematology

English

Adrenal Insufficiency Due to X-Linked Adrenoleukodystrophy Diagnosed in Late Adulthood

Endocrine Abstracts

English

Hypermotility in Clostridium Perfringens Strain SM101 Is Due to Spontaneous Mutations in Genes Linked to Cell Division

Journal of Bacteriology

Molecular Biology

English

ATPase Cycle Analysis Predicts That Mutations Linked to Dilated Cardiomyopathy in Human Beta Myosin Will Impair Force Generation

Biophysical Journal

English

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

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Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.

Journal of Medical Genetics

English

A Novel Mouse Model of X-Linked Cardiac Hypertrophy

American Journal of Physiology - Heart and Circulatory Physiology

Cardiovascular Medicine

English

Mutations Linked to Paternal Age

Science-Business eXchange

English

X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene

Journal of Allergy and Clinical Immunology

English