检索结果 - Martins, Fábio Tadeu Arrojo

A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene 由 Martins, Fábio Tadeu Arrojo, Ramos, Berenice Dias, Sartorato, Edi Lúcia

获取全文 获取全文 获取全文

A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene 由 Martins, Fábio Tadeu Arrojo, Ramos, Berenice Dias, Sartorato, Edi Lúcia

获取全文

Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping Platform 由 Martins, Fábio Tadeu Arrojo, Ramos, Priscila Zonzini, Svidnicki, Maria Carolina Costa Melo, Castilho, Arthur Menino, Sartorato, Edi Lúcia

获取全文 获取全文 获取全文

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON) 由 Martins, Fábio Tadeu Arrojo, Miranda, Paulo Maurício do Amor Divino, Fernandes, Marcela Scabello Amaral, Maciel-Guerra, Andréa Trevas, Sartorato, Edi Lúcia

获取全文 获取全文

Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology 由 Svidnicki, Maria Carolina CCosta CMelo, Silva-Costa, Sueli Matilde, Ramos, Priscila Zonzini, dos Santos, Nathalia Zocal Pereira, Martins, Fábio Tadeu Arrojo, Castilho, Arthur Menino, Sartorato, Edi Lúcia

获取全文 获取全文 获取全文

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1 由 Brownstein, Zippora, Gulsuner, Suleyman, Walsh, Tom, Martins, Fábio Tadeu Arrojo, Taiber, Shahar, Isakov, Ofer, Lee, Ming K., Bordeynik-Cohen, Mor, Birkan, Maria, Chang, Weise, Casadei, Silvia, Danial-Farran, Nada, Abu-Rayyan, Amal, Carlson, Ryan, Kamal, Lara, Arnþórsson, Ásgeir Örn, Sokolov, Meirav, Gilony, Dror, Lipschitz, Noga, Frydman, Moshe, Davidov, Bella, Macarov, Michal, Sagi, Michal, Vinkler, Chana, Poran, Hana, Sharony, Reuven, Samara, Nadra, Zvi, Na’ama, Baris-Feldman, Hagit, Singer, Amihood, Handzel, Ophir, Hertzano, Ronna, Ali-Naffaa, Doaa, Ruhrman-Shahar, Noa, Madgar, Ory, Sofrin, Efrat, Peleg, Amir, Khayat, Morad, Shohat, Mordechai, Basel-Salmon, Lina, Pras, Elon, Lev, Dorit, Wolf, Michael, Steingrimsson, Eirikur, Shomron, Noam, Kelley, Matthew W., Kanaan, Moien, Allon-Shalev, Stavit, King, Mary-Claire, Avraham, Karen B.

获取全文 获取全文 获取全文