Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Gabrielle N, Manzoli"'
Autor:
Memoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, Shengru Guo, Ahmet Mutlu, Mahmut Tayyar Kalcioglu, Serhat Seyhan, Claudia Carranza, Murtaza Bonyadi, Nejat Mahdieh, Muzeyyen Yildirim-Baylan, Erick Figueroa-Ildefonso, Ozgul Alper, Tahir Atik, Abdurrahman Ayral, Nazim Bozan, Burhan Balta, Christian Rivas, Gabrielle N. Manzoli, Fabiola Huesca-Hernandez, Raja A. H. Kuchay, Merve Durgut, Guney Bademci, Mustafa Tekin
Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably non-syndromic HL in 322 families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b34b9d561748a50db02b17e2cdc5635
https://hdl.handle.net/20.500.12866/13603
https://hdl.handle.net/20.500.12866/13603
Autor:
Têmis M. Félix, Angelina Xavier Acosta, Isalis Sanchez-Pena, Gabrielle N. Manzoli, Xue Zhong Liu, Mustafa Tekin, Ibis Menéndez, Susan H. Blanton, F. Basak Cengiz, Guney Bademci, Joseph Foster, Kiyoko Abe-Sandes, Danniel da Silva, Demet Tekin
Publikováno v:
Annals of Human Genetics. 80:327-331
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deaf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::687e77819f85978b846cff82a85b556d
https://doi.org/10.1111/ahg.12177
https://doi.org/10.1111/ahg.12177
Autor:
Gabrielle N, Manzoli, Guney, Bademci, Angelina X, Acosta, Têmis M, Félix, F Basak, Cengiz, Joseph, Foster, Danniel S Dias, Da Silva, Ibis, Menendez, Isalis, Sanchez-Pena, Demet, Tekin, Susan H, Blanton, Kiyoko, Abe-Sandes, Xue Zhong, Liu, Mustafa, Tekin
Publikováno v:
Annals of human genetics. 80(6)
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deaf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66a46925bf866f13d2d3f8adc9f01a90
https://pubmed.ncbi.nlm.nih.gov/27870113
https://pubmed.ncbi.nlm.nih.gov/27870113
Autor:
Roberta Melo Calvoso Paulon, Kiyoko Abe-Sandes, Angelina Xavier Acosta, Gabrielle N. Manzoli, Alan H. Bittles, Carla M.C.A. Padovani, Danniel da Silva, Luciene da Cruz Fernandes, Iza Cristina S. de Castro
Publikováno v:
International journal of pediatric otorhinolaryngology. 77(7)
OBJECTIVE: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. METHODS: The present study investigated 81 subjec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285647bfeeada5e95c5078f0445780d3
https://pubmed.ncbi.nlm.nih.gov/23684175
https://pubmed.ncbi.nlm.nih.gov/23684175