Kết quả tìm kiếm - Raheel Qamar
- Đang hiển thị 1 - 13 kết quả của 13
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1
Evolution of codon usage in Zika virus genomes is host and vector specific Bằng Azeem Mehmood Butt, Izza Nasrullah, Raheel Qamar, Yigang Tong
Được phát hành 2016Artigo -
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Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark Bằng Galuh Astuti, Mette Bertelsen, Markus N. Preising, Muhammad Ajmal, Birgit Lorenz, Sultana MH Faradz, Raheel Qamar, Rob W.J. Collin, Thomas Rosenberg, Frans P.M. Cremers
Được phát hành 2015Artigo -
5
<i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease Bằng Riccardo Sangermano, Mubeen Khan, Stéphanie S. Cornelis, Valerie Richelle, Sílvia Albert, Alejandro Garanto, Duaa Elmelik, Raheel Qamar, Dorien Lugtenberg, L. Ingeborgh van den Born, Rob W.J. Collin, Frans P.M. Cremers
Được phát hành 2017Artigo -
6
Y-Chromosome Lineages Trace Diffusion of People and Languages in Southwestern Asia Bằng Lluı́s Quintana-Murci, Csilla Krausz, Tatiana Zerjal, S.Hamid Sayar, Michael F. Hammer, S. Qasim Mehdi, Qasim Ayub, Raheel Qamar, Aisha Mohyuddin, Uppala Radhakrishna, Mark A. Jobling, Chris Tyler‐Smith, Ken McElreavey
Được phát hành 2001Artigo -
7
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families Bằng Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M. Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir Abbas Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar
Được phát hành 2014Artigo -
8
Differential Structuring of Human Populations for Homologous X and Y Microsatellite Loci Bằng Rosaria Scozzari, Fulvio Cruciani, Patrizia Malaspina, P. Santolamazza, Bianca Maria Ciminelli, Antonio Torroni, David Modiano, Douglas C. Wallace, Kenneth K. Kídd, Antonel Olckers, Pedro Moral, L. Terrenato, Nejat Akar, Raheel Qamar, Atika Mansoor, S. Qasim Mehdi, Tullio Meloni, Giuseppe Vona, David E.C. Cole, Wangwei Cai, Andrea Novelletto
Được phát hành 1997Artigo -
9
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Bằng Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Sohail Aziz Paracha, Maleeha Azam, Ilse Kern, Justyna Iwaszkiewicz, Omer Farooq, Constantin J. Pournaras, Ariane Malclès, Mateusz Kecik, Carlo Rivolta, Waqar Muzaffar, Aziz Qurban, Liaqat Ali, Yacine Aggoun, Federico Santoni, Periklis Makrythanasis, Jawad Ahmed, Raheel Qamar, Muhammad Tahir Sarwar, L. Keith Henry, Stylianos E. Antonarakis
Được phát hành 2019Artigo -
10
Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide Bằng Philip E. Stuart, Lam C. Tsoi, Rajan P. Nair, Manju Ghosh, Madhulika Kabra, Pakeeza Arzoo Shaiq, Ghazala Kaukab Raja, Raheel Qamar, B.K. Thelma, Matthew T. Patrick, Anita Parihar, S. Bhaskar Singh, Sujay Khandpur, Uma Kumar, Michael Wittig, Frauke Degenhardt, Trilokraj Tejasvi, John J. Voorhees, Stephan Weidinger, André Franke, Gonçalo R. Abecasis, Vinod Sharma, James T. Elder
Được phát hành 2021Artigo -
11
Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa Bằng Dikla Bandah‐Rozenfeld, Rob W.J. Collin, Eyal Banin, L. Ingeborgh van den Born, Karlien L. M. Coene, Anna M. Siemiatkowska, Lina Zelinger, Muhammad Imran Khan, Dirk J. Lefeber, Inbar Erdinest, Francesco Testa, Francesca Simonelli, Krysta Voesenek, Ellen A.W. Blokland, Tim M. Strom, Caroline C. W. Klaver, Raheel Qamar, Sandro Banfi, Frans P.M. Cremers, Dror Sharon, Anneke I. den Hollander
Được phát hành 2010Artigo -
12
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families Bằng Ricardo Harripaul, Nasim Vasli, А. О. Михайлов, Muhammad Rafiq, Kirti Mittal, Christian Windpassinger, Taimoor I. Sheikh, Abdul Noor, Hina Mahmood, Samantha I Downey, Maneesha Johnson, Kayla Vleuten, Lauren Bell, Muhammad Ilyas, Falak Sher Khan, Valeed Khan, Mohammad Moradi, M. Ayaz, Farooq Naeem, Asieh Heidari, Iqra I. Ahmed, Shirin Ghadami, Zehra Agha, Sirous Zeinali, Raheel Qamar, Hossein Mozhdehipanah, Peter John, Asif Mir, Muhammad Ansar, Leon French, Muhammad Ayub, John B. Vincent
Được phát hành 2017Artigo -
13
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements Bằng Feng Wang, Hui Wang, Han-Fang Tuan, Duy H. Nguyen, Vincent Sun, Vafa Keser, Sara J. Bowne, Lori S. Sullivan, Hongrong Luo, Ling Zhao, Xia Wang, Jacques Zaneveld, Jason S. Salvo, Sorath Noorani Siddiqui, Louise Mao, Dianna K. Wheaton, David G. Birch, Kari Branham, John R. Heckenlively, Cindy Wen, Ken Flagg, Henry Ferreyra, Jacqueline Pei, Ayesha Khan, Huanan Ren, Keqing Wang, Irma López, Raheel Qamar, Juan Carlos Zenteno, Raúl Ayala-Ramírez, Beatriz Buentello‐Volante, Qing Fu, David Simpson, Yumei Li, Ruifang Sui, Giuliana Silvestri, Stephen P. Daiger, Robert K. Koenekoop, Kang Zhang, Rui Chen
Được phát hành 2013Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Mutation
Allele
Evolutionary biology
Genotype
Missense mutation
Computational biology
Medicine
Retinal degeneration
Retinitis pigmentosa
ABCA4
Biochemistry
Chromosome
Demography
Disease gene identification
Exome sequencing
Exon
Genome
Haplotype
Locus (genetics)
Microsatellite
Nonsense mutation
Phenotype
Population
Proband
Retinal
Sociology
Alternative splicing