المؤلفون: Michelle Grunin, Daria Triffon, Gala Beykin, Elior Rahmani, Regev Schweiger, Liran Tiosano, Samer Khateb, Shira Hagbi-Levi, Batya Rinsky, Refael Munitz, Thomas W. Winkler, Iris M. Heid, Eran Halperin, Shai Carmi, Itay Chowers

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/3409c3c4eb8c4bab900e2f3a3246f280Test

المؤلفون: Mor Hanany, Hadas Newman, Tamar Ben-Yosef, Eedy Mezer, Frans P.M. Cremers, Eyal Banin, Alexey Obolensky, Itay Chowers, Samer Khateb, Muhammad Imran Khan, Avigail Beryozkin, Dror Sharon, Carlos Alberto Idrobo-Robalino

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports, 10, 1
Scientific Reports, 10
Scientific Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Visual acuity, genetic structures, Visual Acuity, lcsh:Medicine, Diseases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Cohort Studies, 0302 clinical medicine, Night Blindness, Israel, Child, Signs and symptoms, lcsh:Science, Aged, 80 and over, education.field_of_study, Multidisciplinary, Clinical pathology, medicine.diagnostic_test, Middle Aged, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Retinitis Pigmentosa, Tomography, Optical Coherence, Adult, medicine.medical_specialty, Adolescent, Fundus Oculi, Population, Nonsense mutation, Genes, Recessive, Article, Young Adult, 03 medical and health sciences, Medical research, All institutes and research themes of the Radboud University Medical Center, Ophthalmology, Retinitis pigmentosa, Electroretinography, medicine, Genetics, Humans, Allele, Eye Proteins, Outer nuclear layer, education, Alleles, Aged, business.industry, lcsh:R, medicine.disease, eye diseases, 030104 developmental biology, Jews, Mutation, 030221 ophthalmology & optometry, lcsh:Q, sense organs, Visual Fields, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827c9bb9588d9d53c56e9c32f3396dfaTest
http://link.springer.com/article/10.1038/s41598-020-72028-0Test

المؤلفون: Karen Hendler, Claudia Yahalom, Isabelle Audo, Dror Sharon, Samer Khateb, Alaa AlTalbishi, Christina Zeitz, Prasanthi Namburi, Ruth Sheffer, Eyal Banin, Lina Zelinger

المساهمون: The Hebrew University of Jerusalem (HUJ), Hadassah Hebrew University Medical Center [Jerusalem], Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), University College of London [London] (UCL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Gestionnaire, Hal Sorbonne Université

المصدر: Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9, pp.12047. ⟨10.1038/s41598-019-46811-7⟩
Scientific Reports, 2019, 9, pp.12047. ⟨10.1038/s41598-019-46811-7⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Molecular biology, lcsh:Medicine, medicine.disease_cause, Genetic analysis, 0302 clinical medicine, Night Blindness, Genotype, Genetics research, Myopia, Medicine, lcsh:Science, Congenital stationary night blindness, Genetics, Mutation, Multidisciplinary, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Disease gene identification, Retinal diseases, 3. Good health, Arabs, Pedigree, Phenotype, [SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Female, Nonsense mutation, TRPM Cation Channels, Genes, Recessive, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Article, 03 medical and health sciences, Humans, Genetic Predisposition to Disease, Allele, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, TRPM1, Alleles, Genetic Association Studies, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], business.industry, lcsh:R, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Jews, [SDV.GEN.GPO] Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], lcsh:Q, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::366e3c7c5faeed44407c34e0bf0d8a2fTest
http://europepmc.org/articles/PMC6700182Test

المؤلفون: Samuel G. Jacobson, Alexis Boleda, Abraham Zlotogorski, Tzipora C. Falik-Zaccai, Jacob Pe'er, Csilla H. Lazar, Itay Chowers, Liliana Mizrahi-Meissonnier, Tamar Ben-Yosef, Linn Gieser, Anand Swaroop, Samer Khateb, Dror Sharon, Avigail Beryozkin, Michal Sagi, Elia Shevah, Eyal Banin, Yitzhak Hemo, Rinki Ratnapriya, Eduard Averbuch, Anat Blumenfeld, Ola Alimi-Kasem, Adva Kimchi

المصدر: Scientific Reports

مصطلحات موضوعية: Adult, Genetic Markers, Male, Population, Mutation, Missense, Biology, Polymorphism, Single Nucleotide, Genetic analysis, Article, symbols.namesake, Retinal Diseases, Risk Factors, Prevalence, Humans, Exome, Genetic Predisposition to Disease, Israel, education, Genetic Association Studies, Exome sequencing, Aged, Aged, 80 and over, Genetics, Sanger sequencing, education.field_of_study, Multidisciplinary, Chromosome Mapping, Sequence Analysis, DNA, Middle Aged, Arabs, Genetic marker, symbols, Female, Human genome, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22385bdd6ef6f93b6ec2c286cccd1b9bTest
https://doi.org/10.1038/srep13187Test