Resultats de la cerca - Abbe, Izoduwa

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

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Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability per 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

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Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families per 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

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Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa per 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.

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Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population per 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.

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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability per 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.

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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss per 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

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Rare A2ML1 variants confer susceptibility to otitis media per 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.

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