Hasil Pencarian - Sheikh Riazuddin

Perbaiki Hasil
  1. 1
    Some Deafness-Causing Mutations Can Be Silenced with the Appropriate Gene Partner

    Some Deafness-Causing Mutations Can Be Silenced with the Appropriate Gene Partner oleh Edward Wilcox, Saima Riazuddin, Sheikh Riazuddin

    Diterbitkan 2001-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    In Vitro Differentiation Potential of Human Placenta Derived Cells into Skin Cells

    In Vitro Differentiation Potential of Human Placenta Derived Cells into Skin Cells oleh Ruhma Mahmood, Mahmood S. Choudhery, Azra Mehmood, Shaheen N. Khan, Sheikh Riazuddin

    Diterbitkan 2015-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.

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

    Diterbitkan 2018-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Priming with caffeic acid enhances the potential and survival ability of human adipose-derived stem cells to counteract hypoxia

    Priming with caffeic acid enhances the potential and survival ability of human adipose-derived stem cells to counteract hypoxia oleh H.M. Shifa ul Haq, Ramla Ashfaq, Azra Mehmood, Warda Shahid, Hafiz Ghufran Azam, Maryam Azam, Saba Tasneem, Shehla Javed Akram, Kausar Malik, Sheikh Riazuddin

    Diterbitkan 2023-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.

    An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. oleh Thomas J Jaworek, Elodie M Richard, Anna A Ivanova, Arnaud P J Giese, Daniel I Choo, Shaheen N Khan, Sheikh Riazuddin, Richard A Kahn, Saima Riazuddin

    Diterbitkan 2013-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function

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

    Diterbitkan 2021-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

    Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly oleh Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A. Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A. Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin

    Diterbitkan 2024-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  20. 20
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: