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Publications by Matilde Cescon

Autosomal Recessive Bethlem Myopathy: A Clinical, Genetic and Functional Study

Neuromuscular Disorders

English

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Bethlem Myopathy

English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

Molecular Biology

English

Mutations in the Nebulin Gene Associated With Autosomal Recessive Nemaline Myopathy

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

Multidisciplinary

English

Autosomal Recessive Brachyolmia

English

Autosomal Recessive Bestrophinopathy

English

Autosomal Recessive Congenital Ichthyosis in Sweden and Estonia: Clinical, Genetic and Ultrastructural Findings in Eighty-Three Patients

Acta Dermato-Venereologica

English

Contribution to Clinical Characterization of Autosomal Recessive Hereditary Ataxias

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

English

Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia

Arteriosclerosis, Thrombosis, and Vascular Biology

Cardiovascular Medicine

English

Autosomal Recessive Frontotemporal Pachygyria

English