Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Forbes D. C. Manson
Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Related publications
Autosomal Recessive Bestrophinopathy
Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy
Acta Ophthalmologica
Medicine
Ophthalmology
Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis
Experimental Dermatology
Biochemistry
Dermatology
Molecular Biology
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
Correction: Autosomal Recessive Lissencephaly With Cerebellar Hypoplasia Is Associated With Human RELN Mutations
Nature Genetics
Genetics
RANK-dependent Autosomal Recessive Osteopetrosis: Characterization of Five New Cases With Novel Mutations
Journal of Bone and Mineral Research
Endocrinology
Orthopedics
Sports Medicine
Metabolism
Diabetes
Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia
Genome Biology
A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families
Journal of Human Genetics
Genetics
A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family
British Journal of Dermatology
Dermatology
Medicine