21
TITLE: The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes  Full Text
AUTHORS: Ana Rita Lameiras; Ana Claudia Goncalves; Ricardo Santos; Assuncao O'Neill; Luis Roque dos Reis; Tiago Daniel Matos ; Graca Fialho; Helena Caria; Pedro Escada;
PUBLISHED: 2015, SOURCE: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, VOLUME: 79, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
22
TITLE: WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case  Full Text
AUTHORS: Goncalves, AC; Matos, TD ; Simoes Teixeira, HR; Pimenta Machado, MP; Simao, M; Dias, OP; Andrea, M; Fialho, G; Caria, H;
PUBLISHED: 2014, SOURCE: GENE, VOLUME: 538, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
23
TITLE: Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report  Full Text
AUTHORS: Joana Rita Chora; Helena Simões-Teixeira; Tiago Daniel Matos; Jorge Humberto Martins; Marisa Alves; Raquel Ferreira; Luís Silva; Carlos Ribeiro; Graça Fialho; Helena Caria;
PUBLISHED: 2012, SOURCE: Case Reports in Genetics, VOLUME: 2012
INDEXED IN: CrossRef
IN MY: ORCID
24
TITLE: Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association   Full Text
AUTHORS: Matos, TD ; Simões-Teixeira, H; Caria, H; Cascão, R; Rosa, H; O'Neill, A; Ó Dias; Andrea, ME; Kelsell, DP; Fialho, G;
PUBLISHED: 2011, SOURCE: Genetics Research International, VOLUME: 2011
INDEXED IN: CrossRef
IN MY: ORCID
25
TITLE: DFNB1-associated deafness in Portuguese cochlear implant users: Prevalence and impact on oral outcome  Full Text
AUTHORS: Joana Rita Gaspar D M de Barros Martinho Chora; Tiago Daniel M Morim Matos ; Jorge Humberto F Ferreira Martins; Marisa Costa Alves; Susana Margarida S Sousa Andrade; Luis Filipe D dos Santos Silva; Carlos Alberto D dos Reis Ribeiro; Marilia Cristina D de Sousa Antunes ; Maria Graca M A Monteiro Azevedo Fialho ; Maria Helena D R de Figueiredo Ramos Caria;
PUBLISHED: 2010, SOURCE: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, VOLUME: 74, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
26
TITLE: RENIN-ANGIOTENSIN-ALDOSTERONE SYSTEM (RAAS) And its Pharmacologic Modulation  Full Text
AUTHORS: Anabela Giestas; Isabel Palma; Maria Helena Ramos;
PUBLISHED: 2010, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 23, ISSUE: 4
INDEXED IN: WOS
27
TITLE: Evaluation of sample processing and sub-sampling performance  Full Text
AUTHORS: da Silva, RJNB ; Figueiredo, H; Santos, JR; Camoes, MFGFC;
PUBLISHED: 2003, SOURCE: ANALYTICA CHIMICA ACTA, VOLUME: 477, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
28
TITLE: Mitochondrial DNA mutations and deafness in the Portuguese population  Full Text
AUTHORS: Caria, H; Matos, T; Galhardo, I; Simao, M; O'Neill, A; Dias, O; Andrea, M; Correia, C; Fialho, G;
PUBLISHED: 2002, SOURCE: European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics in EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 10
INDEXED IN: WOS
IN MY: ORCID
29
TITLE: ND gene: Mutations found in two Portuguese families.
AUTHORS: Caria, HFR; Vitorino, M; Mena, A; Galhardo, L; Simao, M; Dias, O; Andrea, M; Correia, C; Fialho, G;
PUBLISHED: 2001, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 69, ISSUE: 4
INDEXED IN: WOS
IN MY: ORCID
30
TITLE: Dominant deafness in Portuguese families - New mutations in the TECTA gene.
AUTHORS: Camara, J; Vieira, H; Vitorino, M; Mena, A; Caria, H; Simao, M; Galhardo, I; Netta, T; Dias, O; Andrea, M; Correia, C; Fialho, G;
PUBLISHED: 2000, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 67, ISSUE: 4
INDEXED IN: WOS
IN MY: ORCID
Page 3 of 4. Total results: 36.