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Publications by Carmel Toomes
Recessive Mutations inTSPAN12Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Loss of CSMD1 Expression Disrupts Mammary Duct Formation While Enhancing Proliferation, Migration and Invasion
Oncology Reports
Medicine
Cancer Research
Oncology
Related publications
Familial Exudative Vitreoretinopathy
British Journal of Ophthalmology
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Familial Exudative Vitreoretinopathy
101 Familial Exudative Vitreoretinopathy
Identification of Novel KIF11 Mutations in Patients With Familial Exudative Vitreoretinopathy and a Phenotypic Analysis
Scientific Reports
Multidisciplinary
Causal Diagnosis of Familial Exudative Vitreoretinopathy in Two Asymptomatic Siblings. Wide-Field Image Study of Retinal Abnormalities Observed in the Posterior Pole
Revista Mexicana de Oftalmologia
Ophthalmology
A Start Codon Mutation of the TSPAN12 Gene in Chinese Families Causes Clinical Heterogeneous Familial Exudative Vitreoretinopathy
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
American Journal of Human Genetics
Genetics
Overview of the Mutation Spectrum in Familial Exudative Vitreoretinopathy and Norrie Disease With Identification of 21 Novel Variants in FZD4, LRP5, and NDP
Human Mutation
Genetics
