Search Results - Arrojo Martins, Fábio Tadeu

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  1. 1
    A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene

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

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  2. 2
    Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

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

    Published in BMC medical genetics
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  3. 3
    Polycomb Repressive Complex 2 Regulates Genes Necessary for Intestinal Microfold Cell (M Cell) Development

    Polycomb Repressive Complex 2 Regulates Genes Necessary for Intestinal Microfold Cell (M Cell) Development by George, Joel Johnson, Oittinen, Mikko, Martin-Diaz, Laura, Zapilko, Veronika, Iqbal, Sharif, Rintakangas, Terhi, Arrojo Martins, Fábio Tadeu, Niskanen, Henri, Katajisto, Pekka, Kaikkonen, Minna U., Viiri, Keijo

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  4. 4
    Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON)

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

    Published in Molecular vision
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  5. 5
    Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform

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

    Published in BMC medical genetics
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  6. 6
    Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

    Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1 by Brownstein, Zippora, Gulsuner, Suleyman, Walsh, Tom, Martins, Fábio T.A., 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, Arnthórsson, Asgeir Ö., Sokolov, Meirav, Gilony, Dror, Lipschitz, Noga, Frydman, Moshe, Davidov, Bella, Macarov, Michal, Sagi, Michal, Vinkler, Chana, Poran, Hana, Sharony, Reuven, Samra, Nadra, Zvi, Na'ama, Baris‐Feldman, Hagit, Singer, Amihood, Handzel, Ophir, Hertzano, Ronna, Ali‐Naffaa, Doaa, Ruhrman‐Shahar, Noa, Madgar, Ory, Sofrin‐Drucker, 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 N., Allon‐Shalev, Stavit, King, Mary‐Claire, Avraham, Karen B.

    Published in Clinical genetics
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  7. 7
    Polycomb Repressive Complex 2 Regulates Genes Necessary for Intestinal Microfold Cell (M Cell) DevelopmentSummary

    Polycomb Repressive Complex 2 Regulates Genes Necessary for Intestinal Microfold Cell (M Cell) DevelopmentSummary by Joel Johnson George, Mikko Oittinen, Laura Martin-Diaz, Veronika Zapilko, Sharif Iqbal, Terhi Rintakangas, Fábio Tadeu Arrojo Martins, Henri Niskanen, Pekka Katajisto, Minna U. Kaikkonen, Keijo Viiri

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  8. 8
    Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan registered OpenArray(TM) Genotyping Platform

    Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan registered OpenArray(TM) Genotyping Platform by Martins, Fabio Tadeu Arrojo, Ramos, Priscila Zonzini, Svidnicki, Maria Carolina Costa Melo, Castilho, Arthur Menino, Sartorato, Edi Lucia

    Published in BMC genetics
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