Resultados de búsqueda - Shahzad, Mohsin
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Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss por Zafar, Saba, Shahzad, Mohsin, Ishaq, Rafaqat, Yousaf, Ayesha, Shaikh, Rehan S., Akram, Javed, Ahmed, Zubair M., Riazuddin, Saima
Publicado 2020Texto -
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In silico screening, SAR and kinetic studies of naturally occurring flavonoids against SARS CoV-2 main protease por Imran, Muhammad, Iqbal, Sana, Hussain, Ajaz, Uddin, Jalal, Shahzad, Mohsin, Khaliq, Tanwir, Razzaq Ahmed, Abdul, Mushtaq, Laiba, Kashif, Muhammad, Mahmood, Khalid
Publicado 2022Texto -
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A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred por Waryah, Ali M., Shahzad, Mohsin, Shaikh, Hina, Sheikh, Shakeel A., Channa, Naseem A., Hufnagel, Robert B., Makhdoom, Asadullah, Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2015Texto -
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Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population por Yousaf, Sairah, Shahzad, Mohsin, Tasleem, Kausar, Sheikh, Shakeel A., Tariq, Nabeela, Shabbir, Asra S., Ali, Muhammad, Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2015Texto -
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Genome sequencing and analysis of genomic diversity in the locally transmitted SARS‐CoV‐2 in Pakistan por Shakeel, Muhammad, Irfan, Muhammad, Nisa, Zaib un, Farooq, Saba, Ain, Noor ul, Iqbal, Waseem, Kakar, Niamatullah, Jahan, Shah, Shahzad, Mohsin, Siddiqi, Saima, Khan, Ishtiaq Ahmad
Publicado 2022Texto -
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Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families por Waryah, Ali M., Ahmed, Zubair M., Choo, Daniel I., Sisk, Robert A., Binder, Munir A., Shahzad, Mohsin, Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Riazuddin, Saima
Publicado 2011Texto -
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DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3 por Khan, Shahid Yar, Riazuddin, Saima, Shahzad, Mohsin, Ahmed, Nazir, Zafar, Ahmad Usman, Rehman, Atteeq Ur, Morell, Robert J, Griffith, Andrew J, Ahmed, Zubair M, Riazuddin, Sheikh, Friedman, Thomas B
Publicado 2010Texto -
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Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79 por Rehman, Atteeq Ur, Morell, Robert J., Belyantseva, Inna A., Khan, Shahid Y., Boger, Erich T., Shahzad, Mohsin, Ahmed, Zubair M., Riazuddin, Saima, Khan, Shaheen N., Riazuddin, Sheikh, Friedman, Thomas B.
Publicado 2010Texto -
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Mutations in FYCO1 identified in families with congenital cataracts por Iqbal, Hira, Khan, Shahid Y., Zhou, Lin, Irum, Bushra, Ali, Muhammad, Ahmed, Mariya R., Shahzad, Mohsin, Ali, Muhammad Hassaan, Naeem, Muhammad Asif, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Publicado 2020Texto -
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Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss por Booth, Kevin T, Ghaffar, Amama, Rashid, Muhammad, Hovey, Luke T, Hussain, Mureed, Frees, Kathy, Renkes, Erika M, Nishimura, Carla J, Shahzad, Mohsin, Smith, Richard J, Ahmed, Zubair, Azaiez, Hela, Riazuddin, Saima
Publicado 2020Texto -
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Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population por Shahzad, Mohsin, Yousaf, Sairah, Waryah, Yar M., Gul, Hadia, Kausar, Tasleem, Tariq, Nabeela, Mahmood, Umair, Ali, Muhammad, Khan, Muzammil A., Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2017Texto -
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Genetic Causes of Oculocutaneous Albinism in Pakistani Population por Sajid, Zureesha, Yousaf, Sairah, Waryah, Yar M., Mughal, Tauqeer A., Kausar, Tasleem, Shahzad, Mohsin, Rao, Ali R., Abbasi, Ansar A., Shaikh, Rehan S., Waryah, Ali M., Riazuddin, Saima, Ahmed, Zubair M.
Publicado 2021Texto -
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Isolation of phytochemicals from Malva neglecta Wallr and their quantum chemical, molecular docking exploration as active drugs against COVID-19 por Irfan, Ahmad, Imran, Muhammad, Khalid, Noreen, Hussain, Riaz, Basra, Muhammad Asim Raza, Khaliq, Tanwir, Shahzad, Mohsin, Hussien, Mohamed, Shah, Asma Tufail, Qayyum, Muhammad Abdul, Al-Sehemi, Abdullah G., Assiri, Mohammed A.
Publicado 2021Texto -
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Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness por Tona, Risa, Lopez, Ivan A., Fenollar-Ferrer, Cristina, Faridi, Rabia, Anselmi, Claudio, Khan, Asma A., Shahzad, Mohsin, Morell, Robert J., Gu, Shoujun, Hoa, Michael, Dong, Lijin, Ishiyama, Akira, Belyantseva, Inna A., Riazuddin, Sheikh, Friedman, Thomas B.
Publicado 2020Texto -
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Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss por Nayak, Gowri, Varga, Lukas, Trincot, Claire, Shahzad, Mohsin, Friedman, Penelope L., Klimes, Iwar, Greinwald, John H., Riazuddin, S Amer, Masindova, Ivica, Profant, Milan, Khan, Shaheen N., Friedman, Thomas B., Ahmed, Zubair M., Gasperikova, Daniela, Riazuddin, Sheikh, Riazuddin, Saima
Publicado 2015Texto -
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Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss por Shahzad, Mohsin, Sivakumaran, Theru A, Qaiser, Tanveer A., Schultz, Julie M., Hussain, Zawar, Flanagan, Megan, Bhinder, Munir A., Kissell, Diane, Greinwald, John H, Khan, Shaheen N., Friedman, Thomas B., Zhang, Kejian, Riazuddin, Saima, Riazuddin, Sheikh, Ahmed, Zubair M.
Publicado 2013Texto -
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Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness por Rehman, Atteeq U., Bird, Jonathan E., Faridi, Rabia, Shahzad, Mohsin, Shah, Sujay, Lee, Kwanghyuk, Khan, Shaheen N., Imtiaz, Ayesha, Ahmed, Zubair M., Riazuddin, Saima, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
Publicado 2016Texto -
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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype por Iqbal, Zafar, Shahzad, Mohsin, Vissers, Lisenka E L M, van Scherpenzeel, Monique, Gilissen, Christian, Razzaq, Attia, Zahoor, Muhammad Yasir, Khan, Shaheen N, Kleefstra, Tjitske, Veltman, Joris A, de Brouwer, Arjan P M, Lefeber, Dirk J, van Bokhoven, Hans, Riazuddin, Sheikh
Publicado 2013Texto