Hasil Pencarian - S Amer Riazuddin

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  1. 1
    A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa

    A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa oleh Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin, J. Fielding Hetmancik

    Diterbitkan 2018-07-01
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  2. 2
    Autophagy Requirements for Eye Lens Differentiation and Transparency

    Autophagy Requirements for Eye Lens Differentiation and Transparency oleh Lisa Brennan, M. Joseph Costello, J. Fielding Hejtmancik, A. Sue Menko, S. Amer Riazuddin, Alan Shiels, Marc Kantorow

    Diterbitkan 2023-02-01
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  3. 3
    Generation and proteome profiling of PBMC-originated, iPSC-derived lentoid bodies

    Generation and proteome profiling of PBMC-originated, iPSC-derived lentoid bodies oleh Muhammad Ali, Firoz Kabir, Snehal Raskar, Santosh Renuse, Chan Hyun Na, Michael Delannoy, Shahid Y. Khan, S. Amer Riazuddin

    Diterbitkan 2020-07-01
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  4. 4
    Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.

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

    Diterbitkan 2019-01-01
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  5. 5
    A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts

    A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts oleh Bushra Irum, Firoz Kabir, Nadav Shoshany, Shahid Y. Khan, Bushra Rauf, Muhammad Asif Naeem, Tanveer A. Qaiser, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

    Diterbitkan 2022-09-01
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  6. 6
    Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach

    Examining the effects of cigarette smoke on mouse lens through a multi OMIC approach oleh Shahid Y. Khan, Muhammad Ali, Yura Jang, Taekyung Ryu, Andrew J. Schwab, Brian O. Ingram, Peter H. Cable, Chan Hyun Na, James T. Handa, S. Amer Riazuddin

    Diterbitkan 2021-09-01
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  7. 7
    A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

    A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. oleh Xiaodong Jiao, Firoz Kabir, Bushra Irum, Arif O Khan, Qiwei Wang, David Li, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

    Diterbitkan 2016-01-01
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  8. 8
    Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

    Correction: Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. oleh Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

    Diterbitkan 2017-01-01
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  9. 9
    Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

    Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. oleh Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin

    Diterbitkan 2015-01-01
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  10. 10
    Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma

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

    Diterbitkan 2022-10-01
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  11. 11
    Long-term PM2.5 exposure disrupts corneal epithelial homeostasis by impairing limbal stem/progenitor cells in humans and rat models

    Long-term PM2.5 exposure disrupts corneal epithelial homeostasis by impairing limbal stem/progenitor cells in humans and rat models oleh Shengjie Hao, Zhijian Chen, Yuzhou Gu, Lu Chen, Feiyin Sheng, Yili Xu, Di Wu, Yu Han, Bing Lu, Shuying Chen, Wei Zhao, Houfa Yin, Xiaofeng Wang, S. Amer Riazuddin, Xiaoming Lou, Qiuli Fu, Ke Yao

    Diterbitkan 2023-09-01
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  12. 12
    Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

    Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. oleh Bruno Maranhao, Pooja Biswas, Alexander D H Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S Amer Riazuddin, J Fielding Hejtmancik, Radha Ayyagari

    Diterbitkan 2015-01-01
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  13. 13
    Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

    Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. oleh Yi-Ju Li, Mollie A Minear, Jacqueline Rimmler, Bei Zhao, Elmer Balajonda, Michael A Hauser, R Rand Allingham, Allen O Eghrari, S Amer Riazuddin, Nicholas Katsanis, John D Gottsch, Simon G Gregory, Gordon K Klintworth, Natalie A Afshari

    Diterbitkan 2011-04-01
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  14. 14
    Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

    Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts. oleh Bushra Irum, Shahid Y Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

    Diterbitkan 2016-01-01
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  15. 15
    CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago

    CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000–5,000 Years Ago oleh Yan Ma, Xun Wang, Xun Wang, Nadav Shoshany, Nadav Shoshany, Xiaodong Jiao, Adrian Lee, Gregory Ku, Emma L. Baple, Emma L. Baple, James Fasham, James Fasham, Raheela Nadeem, Muhammad Asif Naeem, Sheikh Riazuddin, Sheikh Riazuddin, S. Amer Riazuddin, Andrew H. Crosby, J. Fielding Hejtmancik

    Diterbitkan 2022-03-01
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  16. 16
    Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

    Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. oleh Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

    Diterbitkan 2016-01-01
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  17. 17
    Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

    Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. oleh Bushra Irum, Shahid Y Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin

    Diterbitkan 2017-01-01
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  18. 18
    FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

    FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1 oleh Shahid Y. Khan, Shivakumar Vasanth, Firoz Kabir, John D. Gottsch, Arif O. Khan, Raghothama Chaerkady, Mei-Chong W. Lee, Carmen C. Leitch, Zhiwei Ma, Julie Laux, Rafael Villasmil, Shaheen N. Khan, Sheikh Riazuddin, Javed Akram, Robert N. Cole, C. Conover Talbot, Nader Pourmand, Norann A. Zaghloul, J. Fielding Hejtmancik, S. Amer Riazuddin

    Diterbitkan 2016-04-01
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  19. 19
    Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

    Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. oleh Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y Khan, Kari Branham, Bonnie Huang, John Suk, Benjamin Bakall, Jeffrey L Goldberg, Luis Gabriel, Naheed W Khan, Pongali B Raghavendra, Jason Zhou, Sindhu Devalaraja, Andrew Huynh, Akhila Alapati, Qais Zawaydeh, Richard G Weleber, John R Heckenlively, J Fielding Hejtmancik, Sheikh Riazuddin, Paul A Sieving, S Amer Riazuddin, Kelly A Frazer, Radha Ayyagari

    Diterbitkan 2021-10-01
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  20. 20
    Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

    Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. oleh Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik

    Diterbitkan 2018-08-01
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