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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: Adva, Kimchi, Samer, Khateb, Rong, Wen, Ziqiang, Guan, Alexey, Obolensky, Avigail, Beryozkin, Shoshi, Kurtzman, Anat, Blumenfeld, Eran, Pras, Samuel G, Jacobson, Tamar, Ben-Yosef, Hadas, Newman, Dror, Sharon, Eyal, Banin
المصدر: Ophthalmology. 125(5)
مصطلحات موضوعية: Adult, Male, Alkyl and Aryl Transferases, Adolescent, DNA Mutational Analysis, Visual Acuity, Middle Aged, Protein Serine-Threonine Kinases, Retina, Pedigree, Young Adult, Jews, Mutation, Exome Sequencing, Electroretinography, Humans, Female, Age of Onset, Israel, Visual Fields, Genetic Association Studies, Retinitis Pigmentosa, Tomography, Optical Coherence, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5816cef2cef139b6d90c9bdd33d6978eTest
https://pubmed.ncbi.nlm.nih.gov/31864473Test -
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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 -
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المؤلفون: Samer Khateb, Radgonde Amer, Alaa AlTalbishi
المصدر: European Journal of Ophthalmology. 25:e84-e87
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pathology, Blood–retinal barrier, Gestational Age, Retinal Pigment Epithelium, Serous Retinal Detachment, Preeclampsia, Pre-Eclampsia, Optical coherence tomography, Ischemia, Pregnancy, Ophthalmology, Blood-Retinal Barrier, Humans, Medicine, Fluorescein Angiography, Eclampsia, Proteinuria, medicine.diagnostic_test, Choroid, business.industry, Retinal Detachment, General Medicine, medicine.disease, Fluorescein angiography, eye diseases, medicine.anatomical_structure, Acute Disease, Female, sense organs, medicine.symptom, business, Complication, Tomography, Optical Coherence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3433cf9415cc41c7f30217667b8a2b60Test
https://doi.org/10.5301/ejo.5000586Test -
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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: Itay Chowers, Samer Khateb
المصدر: Encyclopedia of Ophthalmology ISBN: 9783642359514
مصطلحات موضوعية: Retinal degeneration, Pathology, medicine.medical_specialty, Dysplasia, business.industry, Alagille syndrome, medicine, medicine.disease, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cbe956fb72d12eb9e3d3e0633787776Test
https://doi.org/10.1007/978-3-642-35951-4_1101-1Test