Výsledky vyhledávání - Abbe, Izoduwa

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  1. 1
    Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance

    Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance Autor Liaqat, Khurram, Schrauwen, Isabelle, Raza, Syed Irfan, Lee, Kwanghyuk, Hussain, Shabir, Chakchouk, Imen, Nasir, Abdul, Acharya, Anushree, Abbe, Izoduwa, Umair, Muhammad, Ansar, Muhammad, Ullah, Irfan, Shah, Khadim, Bamshad, Michael J., Nickerson, Deborah A., Ahmad, Wasim, Leal, Suzanne M.

    Vydáno 2018
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  2. 2
    Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

    Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability Autor Ansar, Muhammad, Jan, Abid, Santos-Cortez, Regie Lyn P, Wang, Xin, Suliman, Muhammad, Acharya, Anushree, Habib, Rabia, Abbe, Izoduwa, Ali, Ghazanfar, Lee, Kwanghyuk, Smith, Joshua D, Nickerson, Deborah A, Shendure, Jay, Bamshad, Michael J, Ahmad, Wasim, Leal, Suzanne M

    Vydáno 2016
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  3. 3
    Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families

    Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families Autor Shah, Khadim, Mehmood, Sabba, Jan, Abid, Abbe, Izoduwa, Ali, Raja Hussain, Khan, Anwar, Chishti, Muhammad S., Lee, Kwanghyuk, Ahmad, Farooq, Ansar, Muhammad, Shahzad, Shaheen, Nickerson, Deborah A., Bamshad, Michael J., Coucke, Paul J., Santos-Cortez, Regie L. P., Spritz, Richard A., Leal, Suzanne M., Ahmad, Wasim

    Vydáno 2017
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  4. 4
    Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

    Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa Autor Latif, Zahid, Chakchouk, Imen, Schrauwen, Isabelle, Lee, Kwanghyuk, Santos-Cortez, Regie Lyn P., Abbe, Izoduwa, Acharya, Anushree, Jarral, Afeefa, Ali, Imran, Ullah, Ehsan, Khan, Muhammad Nasim, Ali, Ghazanfar, Tahir, Tufail Hussain, Bamshad, Michael J., Nickerson, Deborah A., Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.

    Vydáno 2018
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  5. 5
    Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population

    Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population Autor Santos-Cortez, Regie Lyn P., Reyes-Quintos, Ma. Rina T., Tantoco, Ma. Leah C., Abbe, Izoduwa, Llanes, Erasmo Gonzalo d.V., Ajami, Nadim J., Hutchinson, Diane S., Petrosino, Joseph F., Padilla, Carmencita D., Villarta, Romeo L., Gloria-Cruz, Teresa Luisa, Chan, Abner L., Cutiongco-de la Paz, Eva Maria, Chiong, Charlotte M., Leal, Suzanne M., Abes, Generoso T.

    Vydáno 2016
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  6. 6
    Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

    Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability Autor Santos-Cortez, Regie Lyn P., Khan, Valeed, Sher Khan, Falak Sher, Mughal, Zaib-un-Nisa, Chakchouk, Imen, Lee, Kwanghyuk, Rasheed, Memoona, Hamza, Rifat, Acharya, Anushree, Ullah, Ehsan, Nadeem Saqib, Muhammad Arif, Abbe, Izoduwa, Ali, Ghazanfar, Jawad Hassan, Muhammad, Khan, Saadullah, Azeem, Zahid, Ullah, Irfan, Bamshad, Michael J., Nickerson, Deborah A., Schrauwen, Isabelle, Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.

    Vydáno 2018
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  7. 7
    Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

    Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss Autor Richard, Elodie M., Santos-Cortez, Regie LP., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Shahzad, Mohsin, Acharya, Anushree, Khan, Asma A., Imtiaz, Ayesha, Chakchouk, Imen, Takla, Christina, Abbe, Izoduwa, Rafeeq, Maria, Liaqat, Khurram, Chaudhry, Taimur, Bamshad, Michael J., Schrauwen, Isabelle, Khan, Shaheen N., Morell, Robert J., Zafar, Saba, Ansar, Muhammad, Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Sheik, Friedman, Thomas B., Leal, Suzanne M., Riazuddin, Saima

    Vydáno 2018
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  8. 8
    Rare A2ML1 variants confer susceptibility to otitis media

    Rare A2ML1 variants confer susceptibility to otitis media Autor Santos-Cortez, Regie Lyn P., Chiong, Charlotte M., Reyes-Quintos, Ma. Rina T., Tantoco, Ma. Leah C., Wang, Xin, Acharya, Anushree, Abbe, Izoduwa, Giese, Arnaud P., Smith, Joshua D., Allen, E. Kaitlynn, Li, Biao, Cutiongco-de la Paz, Eva Maria, Garcia, Marieflor Cristy, Llanes, Erasmo Gonzalo D.V., Labra, Patrick John, Gloria-Cruz, Teresa Luisa I., Chan, Abner L., Wang, Gao T., Daly, Kathleen A., Shendure, Jay, Bamshad, Michael J., Nickerson, Deborah A., Patel, Janak A., Riazuddin, Saima, Sale, Michele M., Chonmaitree, Tasnee, Ahmed, Zubair M., Abes, Generoso T., Leal, Suzanne M.

    Vydáno 2015
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