Alfredo Tabith

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

Ana Carla Batissoco, Ronaldo Serafim Abreu-Silva, Maria Cristina C. Braga et al. · Ear and Hearing · 2008 · 88 citations

Life Sciences, Genetics, Molecular Genetics +15

Chromosome imbalances in syndromic hearing loss

ALPM Catelani, Fernando Kok, M. T. B. M. Auricchio et al. · Clinical Genetics · 2009 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Laryngeal malformations in the Richieri-Costa and pereira form of acrofacial dysostosis

Alfredo Tabith, C.G.A. Bento Gonçalves · American Journal of Medical Genetics · 1996 · 22 citations

Medicine, Otolaryngology, Speech-language Pathology +12

Laryngeal malformation in the Richieri‐Costa‐Pereira acrofacial dysostosis: Description of two new patients

Alfredo Tabith, Cristina Guedes de Azevedo Bento‐Gonçalves · American Journal of Medical Genetics Part A · 2003 · 14 citations

Medicine, Otolaryngology, Speech-language Pathology +10

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

Daniela Tiaki Uehara, Érika L. Freitas, Leandro Ucela Alves et al. · Human Genome Variation · 2015 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16