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Ophthalmology|June 12, 2010
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotypeKarin W Littink, L Ingeborgh van den Born, Robert K Koenekoop, 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.
Cancer Research|March 10, 2025
Genomic Characterization of High-Grade Serous Ovarian Carcinoma Reveals Distinct Somatic Features in Black IndividualsKatherine A Lawson-Michod, Jeffrey R Marks, Lindsay J Collin, 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.
Ophthalmology|October 3, 2013
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosaAnna M Siemiatkowska, L Ingeborgh van den Born, P Martin van Hagen, 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.
Investigative Ophthalmology & Visual Science|April 9, 2010
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli populationDikla Bandah-Rozenfeld, Karin W Littink, Tamar Ben-Yosef, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|April 20, 2023
Associations of Post-Diagnosis Lifestyle with Prognosis in Women with Invasive Breast CancerAlyssa N Troeschel, Terryl J Hartman, Lauren E McCullough, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
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