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Publications by Maniglia J.V.
Nonsyndromic Deafness - Molecular Update
The Open Biology Journal
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MYO1F as a Candidate Gene for Nonsyndromic Deafness, DFNB15
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Comprehensive Analysis of Deafness Genes in Families With Autosomal Recessive Nonsyndromic Hearing Loss
PLoS ONE
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Genetics of Nonsyndromic Recessively Inherited Moderate to Severe and Progressive Deafness in Humans
Mapping of a Novel Autosomal Recessive Nonsyndromic Deafness Locus (DFNB46) to Chromosome 18p11.32-P11.31
American Journal of Medical Genetics, Part A
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Advances in Molecular Genetics and the Molecular Biology of Deafness
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Substitutions in the Conserved C2C Domain of Otoferlin Cause DFNB9, a Form of Nonsyndromic Autosomal Recessive Deafness
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A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family
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CORRIGENDUM: Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Nonsyndromic Deafness in a Large Multiethnic Cohort
Genetics in Medicine
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Nonsyndromic Craniosynostosis
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