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 no Clin Genet (2015)

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

Por Shaikh, Rehan S, Reuter, Peggy, Sisk, Robert A, Kausar, Tasleem, Shahzad, Mohsin, Maqsood, Muhammad I, Yousif, Ateeq, Ali, Muhammad, Riazuddin, Saima, Wissinger, Bernd, Ahmed, Zubair M
Publicado no Eur J Hum Genet (2015)

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 no Pigment Cell Melanoma Res (2015)

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 em 2011

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 em 2010

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 em 2010

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 no Sci Rep (2017)

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 no Hum Genet (2015)

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 em 2013

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 no Hum Mutat (2016)

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 em 2013

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Por Rehman, Atteeq U., Gul, Khitab, Morell, Robert J., Lee, Kwanghyuk, Ahmed, Zubair M., Riazuddin, Saima, Ali, Rana A., Shahzad, Mohsin, Jaleel, Ateeq-ul, Andrade, Paula B., Khan, Shaheen N., Khan, Saadullah, Brewer, Carmen C., Ahmad, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Friedman, Thomas B.
Publicado em 2011

Identification and functional characterization of natural human melanocortin 1 receptor (MC1R) mutant alleles in Pakistani population

Por Shahzad, Mohsin, Sires Campos, Julia, Tariq, Nabeela, Herraiz Serrano, Cecilia, Yousaf, Rizwan, Jiménez-Cervantes, Celia, Yousaf, Sairah, Waryah, Yar M., Dad, Haseeb A., Blue, Elizabeth M., Sobreira, Nara, López-Giráldez, Francesc, Kausar, Tasleem, Ali, Muhammad, Waryah, Ali M., Riazuddin, Saima, Shaikh, Rehan S., García-Borrón, José Carlos, Ahmed, Zubair M.
Publicado no Pigment Cell Melanoma Res (2015)

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Por Rehman, Atteeq U, Santos-Cortez, Regie Lyn P, Drummond, Meghan C, Shahzad, Mohsin, Lee, Kwanghyuk, Morell, Robert J, Ansar, Muhammad, Jan, Abid, Wang, Xin, Aziz, Abdul, Riazuddin, Saima, Smith, Joshua D, Wang, Gao T, Ahmed, Zubair M, Gul, Khitab, Shearer, A Eliot, Smith, Richard J H, Shendure, Jay, Bamshad, Michael J, Nickerson, Deborah A, Hinnant, John, Khan, Shaheen N, Fisher, Rachel A, Ahmad, Wasim, Friderici, Karen H, Riazuddin, Sheikh, Friedman, Thomas B, Wilch, Ellen S, Leal, Suzanne M
Publicado no Eur J Hum Genet (2015)

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Por Simon, Mariella, Richard, Elodie M., Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H., Qaiser, Tanveer A., Potluri, Prasanth, Mahl, Sarah E., Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-sheqaih, Nada, Newman, William G., Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N., Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B., Wu, Doris K., Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C., Ahmed, Zubair M., Huang, Taosheng, Riazuddin, Saima
Publicado no PLoS Genet (2015)

Digital Image Processing: Advanced Technologies and Applications

Publicado em 2024