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1دورية أكاديمية
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2دورية أكاديميةNovel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
المؤلفون: Yahya Benbouchta, Imane Cherkaoui Jaouad, Habiba Tazi, Hamza Elorch, Mouna Ouhenach, Abdelali Zrhidri, Khalid Sadki, Abdelaziz Sefiani, Jaber Lyahyai, Amina Berraho
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Corneal dystrophy, Thiel-behnke corneal dystrophy, TGFBI gene, Whole-exome sequencing, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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3دورية أكاديميةNovel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
المؤلفون: Benbouchta, YahyaAff1, Aff2, Cherkaoui Jaouad, Imane, Tazi, Habiba, Elorch, Hamza, Ouhenach, Mouna, Zrhidri, Abdelali, Sadki, Khalid, Sefiani, AbdelazizAff1, Aff3, Lyahyai, Jaber, Berraho, Amina
المصدر: BMC Medical Genomics. 14(1)
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4دورية أكاديمية
المؤلفون: Yong Woo Ji, Hyunmin Ahn, Kyoung-Jin Shin, Tae-im Kim, Kyoung Yul Seo, R. Doyle Stulting, Eung Kweon Kim
المصدر: Journal of Clinical Medicine, Vol 11, Iss 11, p 3055 (2022)
مصطلحات موضوعية: de novo mutation, tautomeric shift, Leu509Pro (L509P), lattice corneal dystrophy, transforming growth factor-β-induced (TGFBI) gene, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Foja, Sabine, Hoffmann, Katrin, Auw-Haedrich, Claudia, Reinhard, Thomas, Rupprecht, Andreas, Gruenauer-Kloevekorn, Claudia
المصدر: International Ophthalmology: The International Journal of Clinical Ophthalmology and Visual Sciences. December 2016 36(6):867-873
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6دورية أكاديمية
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7
المؤلفون: Angela C Chen, Pichaya Chuephanich, Duangratn Niruthisard, Anthony J. Aldave, Doug D Chung
المصدر: Ophthalmic Genetics. 41:639-644
مصطلحات موضوعية: Male, 0301 basic medicine, Late onset, 030105 genetics & heredity, Biology, Slit Lamp Microscopy, Autoantigens, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Transforming Growth Factor beta, TGFBI gene, Humans, Age of Onset, Bowman Membrane, Genetics (clinical), Corneal Dystrophies, Hereditary, Extracellular Matrix Proteins, Epithelium, Corneal, Clinical course, Middle Aged, Non-Fibrillar Collagens, Phenotype, eye diseases, Pedigree, Ophthalmology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), 030221 ophthalmology & optometry, Cancer research, Female, TGFBI, Transforming growth factor
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8
المؤلفون: Hilal Arikoglu, Dudu Erkoç Kaya, Banu Bozkurt, Fehmi Özkan, Fatma Malkondu
المصدر: Türk Oftalmoloji Dergisi, Vol 50, Iss 2, Pp 64-70 (2020)
Turkish Journal of Ophthalmologyمصطلحات موضوعية: 0301 basic medicine, Silent mutation, Male, Sequence analysis, TGFBI gene, DNA Mutational Analysis, Mutation, Missense, lcsh:Medicine, Locus (genetics), Gene mutation, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, lcsh:Ophthalmology, Transforming Growth Factor beta, medicine, Humans, Gene, Aged, Genetics, Corneal Dystrophies, Hereditary, Extracellular Matrix Proteins, lcsh:R, R555W mutation, DNA, Exons, medicine.disease, eye diseases, Pedigree, Granular corneal dystrophy, Ophthalmology, 030104 developmental biology, Phenotype, lcsh:RE1-994, Granular corneal dystrophy type 1, 030221 ophthalmology & optometry, Original Article, Female, TGFBI
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9دورية أكاديمية
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10Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
المؤلفون: Imane Cherkaoui Jaouad, Khalid Sadki, Amina Berraho, Hamza Elorch, Abdelali Zrhidri, Yahya Benbouchta, Jaber Lyahyai, Mouna Ouhenach, Habiba Tazi, Abdelaziz Sefiani
المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, lcsh:Internal medicine, lcsh:QH426-470, genetic structures, Genetic counseling, TGFBI gene, DNA Mutational Analysis, Corneal dystrophy, Case Report, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Cornea, Genetics, medicine, Humans, lcsh:RC31-1245, Genetics (clinical), Exome sequencing, Genetic Association Studies, Sanger sequencing, Corneal Dystrophies, Hereditary, Corneal Diseases, Thiel-behnke corneal dystrophy, Middle Aged, medicine.disease, Phenotype, eye diseases, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, Whole-exome sequencing, 030221 ophthalmology & optometry, symbols, Age of onset