検索結果 - Riazuddin, Saima

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

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Usher proteins in inner ear structure and function 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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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