المؤلفون: Tommaso B. Jannini, Vijay Tailor, Ken K. Nischal, Rodney Nyanhete, Lily Islam, Helena Ahlfors, Maria Bitner-Glindzicz, Mario Zanolli, John Brookes, Camila Gabriel, Thomas Cullup, Mariya Moosajee, Lucy Jenkins, Peng T. Khaw, Robert H. Henderson, Aara Patel, Jane Hayward, Annegret Dahlmann-Noor, Maria Papadopoulos, Leonardo E Valdivia, Jane A. Hurst, Yassir Abbou-Rayyah, Jane C. Sowden

المصدر: Ophthalmology. 126:888-907

مصطلحات موضوعية: Sanger sequencing, 0303 health sciences, Coloboma, business.industry, Eye disease, Glaucoma, medicine.disease, Bioinformatics, Microphthalmia, eye diseases, 03 medical and health sciences, Ophthalmology, symbols.namesake, 0302 clinical medicine, 030221 ophthalmology & optometry, medicine, Congenital cataracts, symbols, Eye disorder, Copy-number variation, business, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6c9daa2bded40b3fbda0cba928be46f0Test
https://doi.org/10.1016/j.ophtha.2018.12.050Test

المؤلفون: Aara, Patel, Jane D, Hayward, Vijay, Tailor, Rodney, Nyanhete, Helena, Ahlfors, Camila, Gabriel, Tommaso B, Jannini, Yassir, Abbou-Rayyah, Robert, Henderson, Ken K, Nischal, Lily, Islam, Maria, Bitner-Glindzicz, Jane, Hurst, Leonardo E, Valdivia, Mario, Zanolli, Mariya, Moosajee, John, Brookes, Maria, Papadopoulos, Peng T, Khaw, Thomas, Cullup, Lucy, Jenkins, Annegret, Dahlmann-Noor, Jane C, Sowden

المصدر: Ophthalmology. 126(6)

مصطلحات موضوعية: Male, Adolescent, DNA Copy Number Variations, Proteome, Genome, Human, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Pedigree, Molecular Diagnostic Techniques, Child, Preschool, Mutation, Humans, Female, Eye Abnormalities, Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5aa5320d005a89fa334d7abde19909f7Test
https://pubmed.ncbi.nlm.nih.gov/32200847Test