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Publications by M.J. Bamshad
A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family
British Journal of Dermatology
Dermatology
Medicine
The Distribution of Human Genetic Diversity: A Comparison of Mitochondrial, Autosomal, and Y-Chromosome Data
American Journal of Human Genetics
Genetics
Related publications
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
Frontiers in Genetics
Genetics
Molecular Medicine
A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families
Journal of Human Genetics
Genetics
A Novel Homozygous Missense Mutation in BHLHA9 Causes Mesoaxial Synostotic Syndactyly With Phalangeal Reduction in a Pakistani Family
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family
Clinical Genetics
Genetics
Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene
Experimental Dermatology
Biochemistry
Dermatology
Molecular Biology
Identification of a Novel Homozygous Mutation, TMPRSS3: C.535G>A, in a Tibetan Family With Autosomal Recessive Non-Syndromic Hearing Loss
PLoS ONE
Multidisciplinary
Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss
Zahedan Journal of Research in Medical Sciences
Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia
Genome Biology
Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family
Journal of Human Genetics
Genetics
