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المؤلفون: Izoduwa Abbe, Jarral A, Kwanghyuk Lee, Tahir Th, Ghazanfar Ali, Muhammad Ansar, Zahid Latif, Michael J. Bamshad, Imen Chakchouk, Suzanne M. Leal, Isabelle Schrauwen, Anushree Acharya, Muhammad Nasim Khan, Insaf Bel Hadj Ali, Ehsan Ullah, Deborah A. Nickerson, Wasim Ahmad, Santos-Cortez Rlp
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, genetic structures, Genetic Linkage, Mutation, Missense, Genes, Recessive, Biology, Cataract, DEAD-box RNA Helicases, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Exome Sequencing, Retinitis pigmentosa, Genetics, medicine, Humans, Missense mutation, early onset autosomal recessive retinitis pigmentosa, linkage analysis, retinal dystrophy, Gene, DHX38, Genetic Association Studies, Exome sequencing, mendelian disease, Sanger sequencing, Genetic heterogeneity, Nucleotide Mapping, Computational Biology, Sequence Analysis, DNA, medicine.disease, Phenotype, eye diseases, Pedigree, Ophthalmoscopy, 030104 developmental biology, RNA splicing, symbols, Female, RNA Splicing Factors, Retinitis Pigmentosa, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0baa3e7e5791aef543dad7a821654e3dTest
https://doi.org/10.1167/iovs.18-23849Test -
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المؤلفون: Kimberly Ewing, Uppala Ratnamala, Andrea Molinari, Swapan K. Nath, Marzena Gajecka, Małgorzata Rydzanicz, Bassem A. Bejjani, Uppala Radhakrishna, Daniel Winters, Kwanghyuk Lee, Jose A. Pitarque, Suzanne M. Leal
المصدر: Investigative Opthalmology & Visual Science. 50:1531
مصطلحات موضوعية: Male, Keratoconus, Down syndrome, Genotype, Genetic Linkage, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, Superoxide Dismutase-1, Genetic linkage, OMIM : Online Mendelian Inheritance in Man, medicine, Humans, Eye Proteins, In Situ Hybridization, Fluorescence, Homeodomain Proteins, Genetics, Chromosomes, Human, Pair 13, Superoxide Dismutase, Chromosome Mapping, Nucleic Acid Hybridization, Middle Aged, medicine.disease, Penetrance, Pedigree, Contact lens, Genes, Osteogenesis imperfecta, Female, Lod Score, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9cb8cfe064e06314358bc43ae96a32aTest
https://doi.org/10.1167/iovs.08-2173Test