Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

Yazar: Ahmed, Zubair M, Jaworek, Thomas J, Sarangdhar, Gowri N, Zheng, Lili, Gul, Khitab, Khan, Shaheen N, Friedman, Thomas B, Sisk, Robert A, Bartles, James R, Riazuddin, Sheikh, Riazuddin, Saima
Yayımlandı J Med Genet (2018)

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

Yazar: 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.
Baskı/Yayın Bilgisi 2011

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Yazar: Ansar, Muhammad, Chung, Hyung-lok, Taylor, Rachel L., Nazir, Aamir, Imtiaz, Samina, Sarwar, Muhammad T., Manousopoulou, Alkistis, Makrythanasis, Periklis, Saeed, Sondas, Falconnet, Emilie, Guipponi, Michel, Pournaras, Constantin J., Ansari, Maqsood A., Ranza, Emmanuelle, Santoni, Federico A., Ahmed, Jawad, Shah, Inayat, Gul, Khitab, Black, Graeme CM., Bellen, Hugo J., Antonarakis, Stylianos E.
Yayımlandı Am J Hum Genet (2018)

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

Yazar: 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
Yayımlandı Eur J Hum Genet (2015)