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Publications by N. Blin
Substitutions in the Conserved C2C Domain of Otoferlin Cause DFNB9, a Form of Nonsyndromic Autosomal Recessive Deafness
Neurobiology of Disease
Neurology
Related publications
Comprehensive Analysis of Deafness Genes in Families With Autosomal Recessive Nonsyndromic Hearing Loss
PLoS ONE
Multidisciplinary
Mapping of a Novel Autosomal Recessive Nonsyndromic Deafness Locus (DFNB46) to Chromosome 18p11.32-P11.31
American Journal of Medical Genetics, Part A
Genetics
A NovelESRRBDeletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment Among Pakistani Families
Genetics Research International
Genetics
Molecular Biology
CORRIGENDUM: Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Nonsyndromic Deafness in a Large Multiethnic Cohort
Genetics in Medicine
Medicine
Genetics
A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.
Journal of Medical Genetics
Genetics
Screening of the Connexin 26 (35delg) Mutation in Egyptian Patients With Autosomal Recessive Nonsyndromic Deafness and Its Relation to the Patients' Iq
Egyptian Journal of Genetics and Cytology
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
American Journal of Human Genetics
Genetics
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
American Journal of Human Genetics
Genetics
A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family
Brazilian Journal of Medical and Biological Research
Immunology
Cell Biology
Pharmacology
Biochemistry
Biophysics
Neuroscience
Medicine
Toxicology
Physiology
Pharmaceutics
