Хайлтын үр дүнгүүд - 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 -н 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 -н 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 -н 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) -н 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 -н 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 -н 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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