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Publications by Rita M Cabral

Autosomal Recessive Gingival Hyperplasia and Dental Anomalies Caused by a 29-Base Pair Duplication in the FAM20A Gene

Journal of Human Genetics

English

Related publications

A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

Journal of Human Genetics

English

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

American Journal of Human Genetics

English

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

Experimental Dermatology

Molecular Biology

English

Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients With and Without a 16–Base Pair Duplication in the HPS1 Gene

Archives of Dermatology

English

GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability

American Journal of Medical Genetics, Part A

English

Genomic Duplication in Dyggve Melchior Clausen Syndrome, a Novel Mutation Mechanism in an Autosomal Recessive Disorder

Journal of Medical Genetics

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

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences

English

Autosomal Recessive Brachyolmia

English