Rezultaty - 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 od Martins, Fábio Tadeu Arrojo, Ramos, Berenice Dias, Sartorato, Edi Lúcia

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

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

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

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Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology od 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

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Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1 od 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.

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