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Plos One|June 21, 2014
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani familiesSobia Shafique, Saima Siddiqi, Margit Schraders, et al.Journal of Medical Genetics|April 17, 2014
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular colobomaMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.Molecular Vision|May 11, 2010
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsiaMaleeha Azam, Rob W J Collin, Syed Tahir Abbas Shah, et al.Molecular Vision|April 6, 2013
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.Gene|September 20, 2022
Role of 19 SNPs in 10 genes with type 2 diabetes in the Pakistani populationNetasha Khan, Andrew D Paterson, Delnaz Roshandel, et al.BMC Musculoskeletal Disorders|August 30, 2022
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindredsMehran Kausar, Noor Ul Ain, Farzana Hayat, et al.Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, et al.Investigative Ophthalmology & Visual Science|May 31, 2014
IMPG2-associated retinitis pigmentosa displays relatively early macular involvementRamon A C van Huet, Rob W J Collin, Anna M Siemiatkowska, et al.American Journal of Human Genetics|February 20, 2003
The genetic legacy of the MongolsTatiana Zerjal, Yali Xue, Giorgio Bertorelle, et al.Pageof 11