Hakutulokset - Riazuddin, Saima

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population Tekijä 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.

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