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Publications by Rosemary Burgess-Mullan

Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Related publications

Autosomal Recessive Bestrophinopathy

English

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

Acta Ophthalmologica

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

Correction: Autosomal Recessive Lissencephaly With Cerebellar Hypoplasia Is Associated With Human RELN Mutations

Nature Genetics

English

RANK-dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations

Journal of Bone and Mineral Research

Sports Medicine

English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

English

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

Journal of Human Genetics

English

A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family

British Journal of Dermatology

English