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1
المؤلفون: Khaled El Matri, Daniel F. Schorderet, Leila El Matri, Yousra Falfoul, Imen Habibi, Safa Halouani, Ahmed Chebil
المصدر: European Journal of Ophthalmology. 32:NP98-NP102
مصطلحات موضوعية: 0301 basic medicine, Multimodal imaging, medicine.medical_specialty, genetic structures, business.industry, General Medicine, Optical coherence tomography angiography, medicine.disease, eye diseases, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, Choroidal neovascularization, Oct angiography, Retinitis pigmentosa, 030221 ophthalmology & optometry, Medicine, sense organs, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9e3e0593ca0c6d0f71591dcd9be7e161Test
https://doi.org/10.1177/11206721211004396Test -
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المؤلفون: Veronika Vaclavik, Francis L. Munier, Hoai Viet Tran, Alexandre Moulin, Daniel F. Schorderet, Youssr Louati
المصدر: Ophthalmic genetics. 42(6)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Visual acuity, genetic structures, Posterior pole, Visual Acuity, Compound heterozygosity, Slit Lamp Microscopy, Retinal Diseases, Cortex (anatomy), Ophthalmology, Cornea, medicine, Humans, Cytochrome P450 Family 4, Genetics (clinical), Aged, Aged, 80 and over, Corneal Dystrophies, Hereditary, Retina, business.industry, Optical Imaging, Dystrophy, Lens Cortex, Crystalline, Middle Aged, eye diseases, medicine.anatomical_structure, Lens (anatomy), Pediatrics, Perinatology and Child Health, Mutation, Female, sense organs, medicine.symptom, business, Crystallization, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d84a8042537cec7d20589e7a2efb4f6Test
https://pubmed.ncbi.nlm.nih.gov/34310258Test -
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المؤلفون: Imen Habibi, Yosra Falfoul, Hoai Viet Tran, Khaled El Matri, Ahmed Chebil, Leila El Matri, Daniel F. Schorderet
المصدر: Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, Vol 9 (2021)مصطلحات موضوعية: 0301 basic medicine, Biology, Compound heterozygosity, whole exome sequencing, Frameshift mutation, Cell and Developmental Biology, 03 medical and health sciences, 0302 clinical medicine, retinitis pigmentosa, Retinitis pigmentosa, Genetic variation, medicine, lcsh:QH301-705.5, pathogenic variants, Exome sequencing, Original Research, Genetics, Genetic heterogeneity, pseudodominant inheritance, Cell Biology, medicine.disease, Phenotype, eye diseases, retinal dystrophies, 030104 developmental biology, lcsh:Biology (General), 030221 ophthalmology & optometry, sense organs, Retinal Dystrophies, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5baca9fbe0d49046faebb100e39e3550Test
https://doi.org/10.3389/fcell.2021.625560Test -
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المؤلفون: Issam El Euch, Leila El Matri, Hela Ghali, Khaled El Matri, Y. Falfoul, N. Chaker, A. Chebil, Daniel F. Schorderet, Imen Habibi, A. Hassairi
المصدر: International ophthalmology. 40(9)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Visual acuity, genetic structures, chemistry.chemical_compound, Young Adult, Ophthalmology, Retinitis pigmentosa, medicine, Humans, Retrospective Studies, Retina, medicine.diagnostic_test, business.industry, Fundus photography, Staphyloma, Retinal, Middle Aged, medicine.disease, eye diseases, Sclera, Scleral Diseases, medicine.anatomical_structure, chemistry, Case-Control Studies, Myopia, Degenerative, sense organs, Choroid, medicine.symptom, business, Retinitis Pigmentosa, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad878b06bccb74c0aac2be46d2e10c4Test
https://pubmed.ncbi.nlm.nih.gov/32358734Test -
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المؤلفون: Ahmed Turki, Yosra Falfoul, Stefan Wyrsch, Maria Helfenstein, Margarita G. Todorova, Daniel F. Schorderet, Imen Habibi, Veronika Vaclavik, Khaled El Matri, Leila El Matri
المصدر: Genes, Vol 10, Iss 12, p 953 (2019)
Genes
Volume 10
Issue 12مصطلحات موضوعية: 0301 basic medicine, Male, Visual acuity, genetic structures, Eye, EOG light rise, 0302 clinical medicine, BEST1, Medicine, Bestrophins, Child, Genetics (clinical), Bestrophinopathy, Eye Diseases, Hereditary, Phenotype, Molecular analysis, Pedigree, best1, medicine.anatomical_structure, Female, medicine.symptom, Autosomal recessive bestrophinopathy, Optic disc, Adult, medicine.medical_specialty, Adolescent, lcsh:QH426-470, phenotype, Retinitis, arb, Article, 03 medical and health sciences, Young Adult, bestrophinopathy, Retinal Diseases, vitelliform macular dystrophy, Ophthalmology, Genetics, Electroretinography, Humans, Genetic Association Studies, business.industry, Correction, mutations, medicine.disease, eye diseases, Electrooculography, lcsh:Genetics, best1 gene, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, sense organs, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e27f1955e3efda9a3059903c2e30ddaTest
https://www.mdpi.com/2073-4425/10/12/953Test -
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المؤلفون: Ahmed Chebil, Fedra Kort, Daniel F. Schorderet, Leila El Matri, Imen Habibi
المصدر: Ophthalmic Genetics. 38:494-497
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Retinal Disorder, Eye Diseases, genetic structures, DNA Mutational Analysis, Consanguinity, Biology, Cataract, 03 medical and health sciences, 0302 clinical medicine, Locus heterogeneity, Exome Sequencing, Retinitis pigmentosa, medicine, Humans, Genetics (clinical), Exome sequencing, Genetics, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, eye diseases, Pedigree, DNA-Binding Proteins, Vitreous Body, Ophthalmology, 030104 developmental biology, Mutation, Myopia, Degenerative, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), 030221 ophthalmology & optometry, Female, sense organs, Retinitis Pigmentosa, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00e0ed027a1781f14cc18d6bfbb5e3baTest
https://doi.org/10.1080/13816810.2016.1275020Test -
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المؤلفون: Nathalie Allaman-Pillet, Daniel F. Schorderet, Anne Oberson
المصدر: Oncotarget
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Tumor suppressor gene, Angiogenesis, MAP Kinase Signaling System, Antigens, Polyomavirus Transforming, Retinal Neoplasms, Blotting, Western, Apoptosis, Mice, Transgenic, Retinal Pigment Epithelium, medicine.disease_cause, Retinoblastoma Protein, retinoblastoma, BIGH3, 03 medical and health sciences, 0302 clinical medicine, Transforming Growth Factor beta, medicine, E2F1, cancer, Animals, Humans, SV40-TAg-Rb mice, Mice, Knockout, Extracellular Matrix Proteins, biology, Retinoblastoma, Reverse Transcriptase Polymerase Chain Reaction, Tumor Suppressor Proteins, Retinoblastoma protein, Transforming growth factor beta, medicine.disease, eye diseases, Cyclin-Dependent Kinases, Tumor Burden, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Oncology, Microscopy, Fluorescence, Tumor progression, 030220 oncology & carcinogenesis, biology.protein, Cancer research, sense organs, Carcinogenesis, Research Paper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38277f6f234eb382dda2e2f51fec6b2fTest
http://europepmc.org/articles/PMC5362501Test -
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المؤلفون: Daniel F. Schorderet, David J. Armstrong, Veronique Vitart, Chris F. Inglehearn, Graeme C.M. Black, Aine Rice, Louise F. Porter, Francis L. Munier, Forbes D C Manson, Alan F. Wright, David Simpson, Judith Lechner, Colin E. Willoughby
المصدر: Human Molecular Genetics, vol. 23, no. 20, pp. 5527-35
مصطلحات موضوعية: Joint Instability, Heterozygote, Keratoconus, Pathology, medicine.medical_specialty, genetic structures, medicine.medical_treatment, Genome-wide association study, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Cornea, Genetics, medicine, Humans, Eye Abnormalities, Allele, Molecular Biology, Genetic Association Studies, Genetics (clinical), Corneal transplantation, Association Studies Articles, Homozygote, Heterozygote advantage, General Medicine, medicine.disease, eye diseases, 3. Good health, DNA-Binding Proteins, medicine.anatomical_structure, Ehlers–Danlos syndrome, Mutation, Skin Abnormalities, Ehlers-Danlos Syndrome, sense organs, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c98c509963fdf9ab71db4105b287a1cTest
https://doi.org/10.1093/hmg/ddu253Test -
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المؤلفون: Bhushan Sarode, Alexandre Moulin, Craig S. Nowell, Yvan Arsenijevic, JongEun Ihm, Friedrich Beermann, Freddy Radtke, Daniel F. Schorderet, Corinne Kostic
المصدر: Pigment Cell & Melanoma Research. 27:580-589
مصطلحات موضوعية: genetic structures, Notch signaling pathway, Iris, Ocular hypertension, Glaucoma, Mice, Transgenic, Dermatology, Biology, General Biochemistry, Genetics and Molecular Biology, Mice, Ciliary body, medicine, Animals, Humans, Iris (anatomy), Eye Proteins, Pigment Epithelium of Eye, Receptors, Notch, Ciliary Body, Anatomy, medicine.disease, eye diseases, Cell biology, Anterior Eye Segment, medicine.anatomical_structure, Oncology, Aniridia, sense organs, Phthisis bulbi, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::090dbdda0e8c102ca771463bc7208f76Test
https://doi.org/10.1111/pcmr.12236Test -
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المؤلفون: Daniel F. Schorderet, Hana Abouzeid, I. S. Othman
المصدر: Klinische Monatsblätter für Augenheilkunde, Vol. 233, No 4 (2016) pp. 456-9
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Mutation/genetics, Recessive/genetics, Leber Congenital Amaurosis, Population, Genes, Recessive, Disease, Fundus (eye), medicine.disease_cause, Polymorphism, Single Nucleotide, Leber Congenital Amaurosis/diagnosis/genetics, 03 medical and health sciences, Atrophy, medicine, Humans, genetics, cone-rod dystrophy, Genetic Predisposition to Disease, RPGRIP1, Polymorphism, education, Genetics, Mutation, education.field_of_study, Genetic heterogeneity, business.industry, Genetic Predisposition to Disease/genetics, Proteins, Dystrophy, medicine.disease, Phenotype, eye diseases, Cytoskeletal Proteins, Ophthalmology, 030104 developmental biology, Genes, Proteins/genetics, Egypt, Female, sense organs, business, Single Nucleotide/genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034c3d6872ee8407db9ee55eca8e60d9Test
https://archive-ouverte.unige.ch/unige:142388Test