Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population von Bashir, Zil-e-Huma, Latief, Noreen, Belyantseva, Inna A, Iqbal, Farheena, Riazuddin, S Amer, Amer Riazuddin, Sheikh, Khan, Shaheen N, Friedman, Thomas B, Riazuddin, Sheikh, Riazuddin, Saima

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CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function von Sethna, Saumil, Scott, Patrick A., Giese, Arnaud P. J., Duncan, Todd, Jian, Xiaoying, Riazuddin, Sheikh, Randazzo, Paul A., Redmond, T. Michael, Bernstein, Steven L., Riazuddin, Saima, Ahmed, Zubair M.

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Frequency distribution of hepatitis C virus genotypes in different geographical regions of Pakistan and their possible routes of transmission von Idrees, Muhammad, Riazuddin, Sheikh

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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts von JIANJUN CHEN, ZHIWEI MA, AMER RIAZUDDIN, S, FIELDING HEJTMANCIK, J, XIAODONG JIAO, FARISS, Robert, LEE KANTOROW, Wanda, KANTOROW, Marc, PRAS, Eran, FRYDMAN, Moshe, PRAS, Elon, RIAZUDDIN, Sheikh

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Sarcococca saligna fabricated gold nanoparticles alleviated in vitro oxidative stress and inflammation in human adipose-derived stem cells von Naseer, Nadia, Mustafa, Muhammad Munam, Latief, Noreen, Fazal, Numan, Tariq, Muhammad, Afreen, Afshan, Yaqub, Faiza, Riazuddin, Sheikh

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Development of NSAID‐loaded nano‐composite scaffolds for skin tissue engineering applications von Zehra, Mubashra, Mehmood, Azra, Yar, Muhammad, Shahzadi, Lubna, Riazuddin, Sheikh

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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma von Ali, Manir, McKibbin, Martin, Booth, Adam, Parry, David A., Jain, Payal, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Khan, Shaheen N., Firasat, Sabika, Shires, Mike, Gilmour, David F., Towns, Katherine, Murphy, Anna-Louise, Azmanov, Dimitar, Tournev, Ivailo, Cherninkova, Sylvia, Jafri, Hussain, Raashid, Yasmin, Toomes, Carmel, Craig, Jamie, Mackey, David A., Kalaydjieva, Luba, Riazuddin, Sheikh, Inglehearn, Chris F.

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Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability von Ghaffar, Amama, Rasheed, Faiza, Rashid, Muhammad, van Bokhoven, Hans, Ahmed, Zubair M, Riazuddin, Sheikh, Riazuddin, Saima

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An overview of HCV molecular biology, replication and immune responses von Ashfaq, Usman A, Javed, Tariq, Rehman, Sidra, Nawaz, Zafar, Riazuddin, Sheikh

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New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder von Faridi, Rabia, Rea, Alessandro, Fenollar-Ferrer, Cristina, O’Keefe, Raymond T., Gu, Shoujun, Munir, Zunaira, Khan, Asma Ali, Riazuddin, Sheikh, Hoa, Michael, Naz, Sadaf, Newman, William G., Friedman, Thomas B.

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Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse von Yousaf, Rizwan, Gu, Chunfang, Ahmed, Zubair M, Khan, Shaheen N, Friedman, Thomas B, Riazuddin, Sheikh, Shears, Stephen B, Riazuddin, Saima

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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss von Richard, Elodie M., Santos‐Cortez, Regie Lyn P., 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., Nickerson, Deborah A., Schrauwen, Isabelle, Khan, Shaheen N., Morell, Robert J., Zafar, Saba, Ansar, Muhammad, Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Sheikh, Friedman, Thomas B., Leal, Suzanne M., Riazuddin, Saima

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma von Rauf, Bushra, Khan, Shahid Y., Jiao, Xiaodong, Irum, Bushra, Ashfaq, Ramla, Zehra, Mubashra, Khan, Asma A., Naeem, Muhammad Asif, Shahzad, Mohsin, Riazuddin, Sheikh, Hejtmancik, J. Fielding, Riazuddin, S. Amer

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Modifier variant of METTL13 suppresses human GAB1-associated profound deafness von Yousaf, Rizwan, Ahmed, Zubair M, Giese, Arnaud Pj, Morell, Robert J, Lagziel, Ayala, Dabdoub, Alain, Wilcox, Edward R, Riazuddin, Sheikh, Friedman, Thomas B, Riazuddin, Saima

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Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome von Faridi, Rabia, Stratton, Pamela, Salmeri, Noemi, Morell, Robert J, Khan, Asma Ali, Usmani, Muhammad A, Newman, William G, Riazuddin, Sheikh, Friedman, Thomas B

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Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family von Jiao, Xiaodong, Khan, Shahid Y, Kaul, Haiba, Butt, Tariq, Naeem, Muhammad Asif, Riazuddin, Sheikh, Hejtmancik, J Fielding, Riazuddin, S Amer

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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families von Li, Lin, Chen, Yabin, Jiao, Xiaodong, Jin, Chongfei, Jiang, Dan, Tanwar, Mukesh, Ma, Zhiwei, Huang, Li, Ma, Xiaoyin, Sun, Wenmin, Chen, Jianjun, Ma, Yan, M'hamdi, Oussama, Govindarajan, Gowthaman, Cabrera, Patricia E, Li, Jiali, Gupta, Nikhil, Naeem, Muhammad Asif, Khan, Shaheen N, Riazuddin, Sheikh, Akram, Javed, Ayyagari, Radha, Sieving, Paul A, Riazuddin, S Amer, Hejtmancik, J Fielding

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Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering von Kang, Changsoo, Riazuddin, Sheikh, Mundorff, Jennifer, Krasnewich, Donna, Friedman, Penelope, Mullikin, James C, Drayna, Dennis

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A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes von Ali, Muhammad, Khan, Shahid Y., Rodrigues, Tony A., Francisco, Tânia, Jiao, Xiaodong, Qi, Hang, Kabir, Firoz, Irum, Bushra, Rauf, Bushra, Khan, Asma A., Mehmood, Azra, Naeem, Muhammad Asif, Assir, Muhammad Zaman, Ali, Muhammad Hassaan, Shahzad, Mohsin, Abu-Amero, Khaled K., Akram, Shehla Javed, Akram, Javed, Riazuddin, Sheikh, Riazuddin, Saima, Robinson, Michael L., Baes, Myriam, Azevedo, Jorge E., Hejtmancik, J. Fielding, Riazuddin, S. Amer

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Glycyrrhizin as antiviral agent against Hepatitis C Virus von Ashfaq, Usman A, Masoud, Muhammad S, Nawaz, Zafar, Riazuddin, Sheikh

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