Search Results - Riazuddin, Saima

Refine Results
  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 by Wilcox, Edward, Riazuddin, Saima, Riazuddin, Sheikh

    Published 2001
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  2. 2
    Usher proteins in inner ear structure and function

    Usher proteins in inner ear structure and function by Ahmed, Zubair M., Frolenkov, Gregory I., Riazuddin, Saima

    Published 2013
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  3. 3
    Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families

    Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families by Noman, Muhammad, Ishaq, Rafaqat, Bukhari, Shazia A., Ahmed, Zubair M., Riazuddin, Saima

    Published 2019
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  4. 4
    Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families

    Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families by Mahmood, Umair, Bukhari, Shazia A., Ali, Muhammad, Ahmed, Zubair M., Riazuddin, Saima

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  5. 5
    Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma

    Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma by Saeedi, Osamah, Yousaf, Sairah, Tsai, Joby, Palmer, Kathleen, Riazuddin, Saima, Ahmed, Zubair M.

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  6. 6
    Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6

    Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6 by Yousaf, Sairah, Sethna, Saumil, Chaudhary, Muhammad A., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  7. 7
    USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

    USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1 by Jaworek, Thomas J., Bhatti, Rashid, Latief, Naureen, Khan, Shaheen N., Riazuddin, Saima, Ahmed, Zubair M

    Published 2012
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  8. 8
    Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology

    Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology by Giese, Arnaud P. J., Ali, Saadat, Isaiah, Amal, Aziz, Ishrat, Riazuddin, Saima, Ahmed, Zubair M.

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  9. 9
    USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

    USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23 by Ahmed, Zubair M, Riazuddin, Saima, Khan, Shaheen N, Friedman, Penelope L, Riazuddin, Sheikh, Friedman, Thomas B

    Published 2008
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  10. 10
    Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability

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

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  11. 11
    Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss

    Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss by Zafar, Saba, Shahzad, Mohsin, Ishaq, Rafaqat, Yousaf, Ayesha, Shaikh, Rehan S., Akram, Javed, Ahmed, Zubair M., Riazuddin, Saima

    Published 2020
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  12. 12
    Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract

    Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract by Jarwar, Priya, Sheikh, Shakeel Ahmed, Waryah, Yar Muhammad, Ujjan, Ikram Uddin, Riazuddin, Saima, Waryah, Ali Muhammad, Ahmed, Zubair M.

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  13. 13
    Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts

    Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts by Hassan, Abdullah Y., Yousaf, Sairah, Levin, Moran R., Saeedi, Osamah J., Riazuddin, Saima, Alexander, Janet L., Ahmed, Zubair M.

    Published 2021
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  14. 14
    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 by Yousaf, Rizwan, Gu, Chunfang, Ahmed, Zubair M., Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Shears, Stephen B., Riazuddin, Saima

    Published 2018
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  15. 15
    DFNB86, a novel autosomal recessive nonsyndromic deafness locus on chromosome 16p13.3

    DFNB86, a novel autosomal recessive nonsyndromic deafness locus on chromosome 16p13.3 by Ali, Rana A., Rehman, Atteeq U., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Sheikh, Friedman, Thomas B., Ahmed, Zubair M., Riazuddin, Saima

    Published 2011
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  16. 16
    A New Locus for Nonsyndromic Deafness DFNB51 Maps to Chromosome 11p13-p12

    A New Locus for Nonsyndromic Deafness DFNB51 Maps to Chromosome 11p13-p12 by Shaikh, Rehan Sadiq, Ramzan, Khushnooda, Nazli, Sabiha, Sattar, Sameera, Khan, Shaheen N., Riazuddin, Saima, Ahmed, Zubair M., Friedman, Thomas B., Riazuddin, Sheikh

    Published 2005
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  17. 17
    Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population

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

    Published 2012
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  18. 18
    A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred

    A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred by Waryah, Ali M., Shahzad, Mohsin, Shaikh, Hina, Sheikh, Shakeel A., Channa, Naseem A., Hufnagel, Robert B., Makhdoom, Asadullah, Riazuddin, Saima, Ahmed, Zubair M.

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  19. 19
    Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

    Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome by Ahmed, Zubair M., Riazuddin, Saima, Aye, Sandar, Ali, Rana A., Venselaar, Hanka, Anwar, Saima, Belyantseva, Polina P., Qasim, Muhammad, Riazuddin, Sheikh, Friedman, Thomas B.

    Published 2008
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:
  20. 20
    Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population

    Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population by Yousaf, Sairah, Shahzad, Mohsin, Tasleem, Kausar, Sheikh, Shakeel A., Tariq, Nabeela, Shabbir, Asra S., Ali, Muhammad, Waryah, Ali M., Shaikh, Rehan S., Riazuddin, Saima, Ahmed, Zubair M.

    Published 2015
    Get full text Get full text Get full text
    Text
    Save to List
    Saved in:

Search Tools: