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Publications by Maria Sofia Falzarano
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
Frontiers in Genetics
Genetics
Molecular Medicine
A Multicenter Comparison of Quantification Methods for Antisense Oligonucleotide-Induced DMD Exon 51 Skipping in Duchenne Muscular Dystrophy Cell Cultures
PLoS ONE
Multidisciplinary
Related publications
A Homozygous Missense Mutation in SLC25A16 Is Associated With Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family
British Journal of Dermatology
Dermatology
Medicine
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
A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families
Journal of Human Genetics
Genetics
Identification of a Novel Homozygous Mutation, TMPRSS3: C.535G>A, in a Tibetan Family With Autosomal Recessive Non-Syndromic Hearing Loss
PLoS ONE
Multidisciplinary
INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family
Clinical Genetics
Genetics
Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss
American Journal of Human Genetics
Genetics
Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss
Zahedan Journal of Research in Medical Sciences
Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family
Journal of Human Genetics
Genetics
Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
