Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

por Rao, Ali Raza, Nazir, Aamir, Imtiaz, Samina, Paracha, Sohail Aziz, Waryah, Yar Muhammad, Ujjan, Ikram Din, Anwar, Ijaz, Iqbal, Afia, Santoni, Federico A., Shah, Inayat, Gul, Khitab, Baig, Hafiz Muhammad Azhar, Waryah, Ali Muhammad, Antonarakis, Stylianos E., Ansar, Muhammad
Publicado 2023

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 2015