المؤلفون: Tony Yammine, Raffi Aprahamian, Mirna Souaid, Nabiha Salem, Johnny Awwad, Chantal Farra

المصدر: Molecular Biology Reports.

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7005ac13cddeeaf2cb32a7aba8588f4
https://doi.org/10.1007/s11033-023-08507-0

المؤلفون: H Mansour, Chantal Farra, Nabiha Salem, M Souaid, Raffi Aprahamian, Tony Yammine

المصدر: Ophthalmic Genetics. 42:744-746

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, business.industry, media_common.quotation_subject, Nonsense, FYCO1 gene, eye diseases, Infantile cataract, Lens protein, Ophthalmology, medicine.anatomical_structure, Lens (anatomy), Pediatrics, Perinatology and Child Health, medicine, Identification (biology), sense organs, business, Genetics (clinical), Exome sequencing, Cortical atrophy, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::595146953a33e62b524a9452e14ea914
https://doi.org/10.1080/13816810.2021.1955277

المؤلفون: Raffi, Aprahamian, T, Yammine, N, Salem, M, Souaid, H, Mansour, C, Farra

المصدر: Ophthalmic genetics. 42(6)

مصطلحات موضوعية: Male, Homozygote, Infant, Genes, Recessive, Exons, Lens Cortex, Crystalline, Polymerase Chain Reaction, Cataract, Pedigree, Consanguinity, Codon, Nonsense, Mutation, Exome Sequencing, Humans, Atrophy, Microtubule-Associated Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::66ca9b618e1ab5e0ce09b37ca06fce99
https://pubmed.ncbi.nlm.nih.gov/34282983