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1
المؤلفون: Diego Almeida, Radgonde Amer, Itay Chowers, Sarah Elbaz-Hayoun, Samer Khateb, Batya Rinsky, Shira Hagbi-Levi, Michelle Grunin, Gala Beykin, Liran Tiosano
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: Male, Proteome, Visual Acuity, Enzyme-Linked Immunosorbent Assay, Serpin, Proteomics, Retina, Aqueous Humor, Endopeptidase activity, Platelet degranulation, Humans, Cellular protein metabolic process, Eye Proteins, age- related macular degeneration, Aged, Aged, 80 and over, Clusterin, biology, Molecular biology, eye diseases, ROC Curve, Wet Macular Degeneration, retinal degeneration, biology.protein, Biomarker (medicine), Female, sense organs, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4af9d926e619df2c5821fdad4816991Test
https://doi.org/10.1167/iovs.62.10.18Test -
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المؤلفون: Samer Khateb, Alaa Abu-Diab, Ayat Khalaileh, Yahya AlSwaiti, Annick Raas-Rothschild, Eyal Banin, Tamar Ben-Yosef, Itay Chowers, Dror Sharon, Israela Lerer
المصدر: Investigative ophthalmologyvisual science. 59(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Genotype, Usher syndrome, DNA Mutational Analysis, Consanguinity, Biology, Myosins, Genetic analysis, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, 03 medical and health sciences, symbols.namesake, Young Adult, otorhinolaryngologic diseases, medicine, Ethnicity, Humans, Genetic Testing, Israel, Child, Exome sequencing, Genetic testing, Genetics, Sanger sequencing, Extracellular Matrix Proteins, medicine.diagnostic_test, Membrane Proteins, medicine.disease, Disease gene identification, Founder Effect, Arabs, Pedigree, 030104 developmental biology, Myosin VIIa, Mutation, symbols, Female, Usher Syndromes, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::627996176dca42ada96fb48c7996662dTest
https://pubmed.ncbi.nlm.nih.gov/29490346Test -
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المؤلفون: Sanne Broekman, Irina Lagovsky, Lina Basel-Vanagaite, Erwin van Wijk, Shay Tzur, Eyal Banin, Erik de Vrieze, Pola Smirin-Yosef, Lonneke Haer-Wigman, Dror Sharon, Samer Khateb, Monika Weisz Hubshman, Frans P.M. Cremers, Alaa Abu-Diab
المصدر: Human Molecular Genetics, 27, 4, pp. 614-624
Human Molecular Genetics, 27, 614-624مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Adult, Photoreceptor Connecting Cilium, Nonsense mutation, Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, chemistry.chemical_compound, Young Adult, All institutes and research themes of the Radboud University Medical Center, Retinitis pigmentosa, Genetics, medicine, Humans, Exome, Molecular Biology, Genetics (clinical), Exome sequencing, Cilium, Retinal, General Medicine, medicine.disease, 030104 developmental biology, chemistry, Mutation, Female, Carrier Proteins, Retinal Dystrophies, Retinitis Pigmentosa
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71c10e70ecb0c1bd167b011d0f775d7Test
https://pubmed.ncbi.nlm.nih.gov/29272404Test -
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المؤلفون: Ann Saada, Carlo Rivolta, Alexey Obolensky, Dror Sharon, Thomas Dierks, Netta Pollack, Tamar Ben-Yosef, Samer Khateb, Markus Damme, Nicola Bedoni, Eyal Banin, Menachem Gross, Björn Kowalewski
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(9)
مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Adult, Male, Hearing loss, Usher syndrome, DNA Mutational Analysis, Mutation, Missense, Biology, Retina, 03 medical and health sciences, 0302 clinical medicine, Retinitis pigmentosa, Exome Sequencing, medicine, Lysosomal storage disease, Missense mutation, Humans, whole-exome sequencing, Genetics (clinical), Exome sequencing, Arylsulfatases, Genetics, Base Sequence, Whole Genome Sequencing, Homozygote, Retinal Degeneration, arylsulfatase G, syndrome, medicine.disease, Founder Effect, Pedigree, 030104 developmental biology, lysosomal storage disease, Mutation, Sensorineural hearing loss, Female, medicine.symptom, Usher Syndromes, 030217 neurology & neurosurgery, Retinitis Pigmentosa, Usher
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458c0e69a3477eb97646a55ca3c9f4b1Test
https://pubmed.ncbi.nlm.nih.gov/29300381Test -
5
المؤلفون: Tamar Ben-Yosef, Alexey Obolensky, Yael Kinarty, Menachem Gross, Eyal Banin, Samer Khateb, Rinki Ratnapriya, Csilla H. Lazar, Inbar Erdinest, Dror Sharon, Hadas Newman, Prasanthi Namburi, Eran Pras, Anand Swaroop, Devorah Marks-Ohana
المصدر: American journal of human genetics. 99(5)
مصطلحات موضوعية: Adult, 0301 basic medicine, genetic structures, Hearing Loss, Sensorineural, Usher syndrome, Cell Cycle Proteins, Biology, 030105 genetics & heredity, medicine.disease_cause, Autoantigens, Frameshift mutation, Young Adult, Exon, 03 medical and health sciences, Retinal Rod Photoreceptor Cells, Report, medicine, Genetics, Humans, Genetics(clinical), RNA, Messenger, Allele, Child, Frameshift Mutation, Alleles, Genetics (clinical), Sequence Deletion, Retina, Mutation, Homozygote, Correction, Exons, medicine.disease, Disease gene identification, medicine.anatomical_structure, 030104 developmental biology, Retinal Cone Photoreceptor Cells, Sensorineural hearing loss, sense organs, Usher Syndromes, Cone-Rod Dystrophies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920146a14617e9979f2a602f307d24e2Test
https://pubmed.ncbi.nlm.nih.gov/27588452Test -
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المؤلفون: Liliana Mizrahi-Meissonnier, Tamar Ben-Yosef, Samer Khateb, Mor Hanany, Segev Meyer, Avigail Beryozkin, Sari Lieberman, Ayat Khalaileh, Dror Sharon, Eyal Banin, Fathieh Abu Turky, Alaa Abu-Diab
المصدر: Journal of medical genetics. 53(9)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Genomics, Biology, 03 medical and health sciences, Exon, Young Adult, Molecular genetics, Genetics, medicine, Humans, Exome, Child, Genetics (clinical), Exome sequencing, Sequence Deletion, Genetic heterogeneity, Genome, Human, Homozygote, Retinal Degeneration, High-Throughput Nucleotide Sequencing, Exons, Sequence Analysis, DNA, Middle Aged, 030104 developmental biology, Medical genetics, Human genome, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73b8249814d93985822ddfbadaa5031fTest
https://pubmed.ncbi.nlm.nih.gov/27208209Test -
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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 -
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المصدر: Nucleic Acids Research
مصطلحات موضوعية: Regulation of gene expression, congenital, hereditary, and neonatal diseases and abnormalities, Messenger RNA, RNA, Translation (biology), Biology, FMR1, Molecular biology, Cell Line, nervous system diseases, Fragile X Mental Retardation Protein, CCAAT-Binding Factor, Gene Expression Regulation, Transcription (biology), Protein Biosynthesis, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, Genetics, Protein biosynthesis, Humans, Nucleic Acid Conformation, 5' Untranslated Regions, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc46de9497164b43afe2b075dd46473fTest
https://doi.org/10.1093/nar/gkm636Test -
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المؤلفون: Inbal Hershco, Michael Fry, Pnina Weisman-Shomer, Lawrence A. Loeb, Samer Khateb
المصدر: Nucleic Acids Research. 32:4145-4154
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, GTP', Heterogeneous Nuclear Ribonucleoprotein A1, RNA Stability, Amino Acid Motifs, Molecular Sequence Data, Protein domain, Nerve Tissue Proteins, RNA-binding protein, Guanosine triphosphate, Biology, Conserved sequence, Fragile X Mental Retardation Protein, chemistry.chemical_compound, Adenosine Triphosphate, Protein structure, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, Genetics, Amino Acid Sequence, Binding site, Conserved Sequence, Repetitive Sequences, Nucleic Acid, Binding Sites, Sequence Homology, Amino Acid, RNA-Binding Proteins, DNA, Articles, Molecular biology, Protein Structure, Tertiary, nervous system diseases, G-Quadruplexes, chemistry, Nucleic Acid Conformation, RNA, Guanosine Triphosphate
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54b3e13f6c1b128ac97f8f35e5cfb3dfTest
https://doi.org/10.1093/nar/gkh745Test -
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المؤلفون: Menachem Gross, Liliana Mizrahi-Meissonnier, Uri Laxer, Eyal Banin, Robert K. Koenekoop, Dror Sharon, Lina Zelinger, Samer Khateb, Carmen Ayuso
المصدر: Journal of medical genetics. 51(7)
مصطلحات موضوعية: Male, Heterozygote, Usher syndrome, media_common.quotation_subject, Nonsense, Nonsense mutation, DNA Mutational Analysis, Cell Cycle Proteins, Biology, Autoantigens, Polymorphism, Single Nucleotide, Consanguinity, Retinitis pigmentosa, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Eye Proteins, Genetics (clinical), Exome sequencing, Phylogeny, media_common, Base Sequence, Homozygote, medicine.disease, Disease gene identification, Pedigree, Codon, Nonsense, Mutation (genetic algorithm), Sensorineural hearing loss, Female, Usher Syndromes, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4ec7f5b1b81a12315593b156bb263abTest
https://pubmed.ncbi.nlm.nih.gov/24780881Test