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Publications by Rossitza P. Naoumova

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

Arteriosclerosis, Thrombosis, and Vascular Biology

Cardiovascular Medicine

English

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Comprehensive Review on the Molecular Genetics of Autosomal Recessive Primary Microcephaly (MCPH)

Genetical Research

English

TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype

European Journal of Human Genetics

English

Novel Aspects of Genetics, Molecular Biology and Clinical Oncology of Sarcomas

Klinicka Onkologie

English

Molecular and Cellular Pathogenesis of Autosomal Recessive Polycystic Kidney Disease

Brazilian Journal of Medical and Biological Research

English

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

Acta Ophthalmologica

English

The Autosomal Recessive Hypercholesterolemia (ARH) Protein Interfaces Directly With the Clathrin-Coat Machinery

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

Multidisciplinary

English

Autosomal Recessive Brachyolmia

English

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

Neuromuscular Disorders

English

Contribution to Clinical Characterization of Autosomal Recessive Hereditary Ataxias

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

English