المؤلفون: Omer Helwa-Shalom, Faris Saba, Elad Spitzer, Salem Hanhan, Koby Goren, Shany I. Markowitz, Dekel Shilo, Nissim Khaimov, Yechiel N. Gellman, Dan Deutsch, Anat Blumenfeld, Hani Nevo, Amir Haze

المصدر: Bone & Joint Research, Vol 12, Iss 10, Pp 615-623 (2023)

مصطلحات موضوعية: amelogenin, articular cartilage, osteochondral injury, rat model, mesenchymal stem cells (mscs), collagens, subchondral bone, cartilage, type i collagen, proteoglycans, immunohistochemistry, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2046-3758

URL الوصول: https://doaj.org/article/c4537746ffe24edd9de060c7b84acc97

المؤلفون: Maria Abu Elasal, Samira Mousa, Manar Salameh, Anat Blumenfeld, Samer Khateb, Eyal Banin, Dror Sharon

المصدر: Genes, Vol 15, Iss 7, p 926 (2024)

مصطلحات موضوعية: consanguinity, gene panel, inherited retinal diseases, retinal dystrophy, targeted next-generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/15/7/926; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/3c418d7a39954c259d1c51099042b06c

المؤلفون: Claudia Yahalom, Ana Navarrete, Atara Juster, Ayan Galbinur, Anat Blumenfeld, Karen Hendler

المصدر: PLoS ONE, Vol 19, Iss 1, p e0296744 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0296744&type=printable; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/93732124bc364f6085531f64909da445

المؤلفون: Karen Hendler, Rani Patal, Ibrahim Saadeh, Claudia Yahalom, Michal Macarov, Ron Braun, Anat Blumenfeld

المصدر: Eye. 36:2052-2056

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Referral, Visual impairment, Vision Disorders, Visual Acuity, Vision, Low, Blindness, medicine, Humans, Israel, Child, Retrospective Studies, business.industry, Medical record, Infant, Newborn, Childhood blindness, Eye Diseases, Hereditary, Retinopathy of prematurity, Retrospective cohort study, medicine.disease, Ophthalmology, Cohort, Observational study, medicine.symptom, business, Visually Impaired Persons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b21febefaefdfb23be566e053d423ae9
https://doi.org/10.1038/s41433-021-01743-3

المؤلفون: Charlotte C. Kruijt, Libe Gradstein, Arthur A. Bergen, Ralph J. Florijn, Benoit Arveiler, Eulalie Lasseaux, Xavier Zanlonghi, Laura Bagdonaite-Bejarano, Anne B. Fulton, Claudia Yahalom, Anat Blumenfeld, Yonatan Perez, Ohad S. Birk, Gerard C. de Wit, Nicoline E. Schalij-Delfos, Maria M. van Genderen

المساهمون: Human Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Netherlands Institute for Neuroscience (NIN), Human genetics

المصدر: Kruijt, C C, Gradstein, L, Bergen, A A, Florijn, R J, Arveiler, B, Lasseaux, E, Zanlonghi, X, Bagdonaite-Bejaran, L, Fulton, A B, Yahalom, C, Blumenfeld, A, Perez, Y, Birk, O S, de Wit, G C, Schalij-Delfos, N E & van Genderen, M M 2022, ' The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism : Similarities and Differences ', Investigative Ophthalmology and Visual Science, vol. 63, no. 1, 19 . https://doi.org/10.1167/iovs.63.1.19
Investigative Ophthalmology & Visual Science, 63(1). ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology and Visual Science, 63(1):19. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, 63(1). Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 63(1):19

مصطلحات موضوعية: Adult, Male, Fovea Centralis, FHONDA, Adolescent, genetic structures, DNA Mutational Analysis, Visual Acuity, misrouting, Young Adult, Anterior Eye Segment, Humans, Child, Aged, Retrospective Studies, Clinical and Epidemiologic Research, Infant, DNA, Syndrome, Middle Aged, eye diseases, melanin, Amino Acid Transport Systems, Neutral, Phenotype, SLC38A8, Albinism, Oculocutaneous, Child, Preschool, Mutation, foveal hypoplasia, Female, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::325324e4b89613cc2a8007ac34b667ab
https://hdl.handle.net/1887/3485320

المؤلفون: Anat Blumenfeld, Oded Shoseyov, Koby Goren, Faris Saba, Meir Liebergall, Amir Haze, Hani Nevo, Naama Dar, Dekel Shilo, Dan Deutsch, Amit Rivkin, Salem Hanhan

المصدر: Journal of Orthopaedic Research. 39:1540-1547

مصطلحات موضوعية: Medial collateral ligament, business.industry, Histology, Anatomy, musculoskeletal system, medicine.anatomical_structure, Ligament, Medicine, Tears, Orthopedics and Sports Medicine, Calcaneofibular ligament, Ankle, Amelogenin, business, Free nerve ending

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::975994af303a24d1594a1d9fa5b7a89e
https://doi.org/10.1002/jor.24718

المؤلفون: Vardiella Meiner, Dror Sharon, Christina Zeitz, Hagar Mor-Shaked, Hadas Mechoulam, Claudia Yahalom, Adva Kimchi, Eyal Banin, Isabelle Audo, Shira Silverstein, Michal Macarov, Anat Blumenfeld

المصدر: Ophthalmic Genetics. 40:443-448

مصطلحات موضوعية: Genetics, Sanger sequencing, genetic structures, medicine.diagnostic_test, business.industry, Haplotype, Pedigree chart, eye diseases, Nyctalopia, Ashkenazi jews, Ophthalmology, symbols.namesake, Pediatrics, Perinatology and Child Health, medicine, symbols, Missense mutation, medicine.symptom, business, Genetics (clinical), Exome sequencing, Electroretinography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::382ce1e499ae38a67b9b06fd9d08913c
https://doi.org/10.1080/13816810.2019.1681008

المؤلفون: Hamzah, Aweidah, Manar, Salameh, Claudia, Yahalom, Anat, Blumenfeld, Michal, Macarov, Nicole, Weisschuh, Susanne, Kohl, Eyal, Banin, Dror, Sharon

المصدر: Molecular Vision

مصطلحات موضوعية: Adult, genetic structures, Adolescent, Cyclic Nucleotide-Gated Cation Channels, Infant, Color Vision Defects, eye diseases, Introns, Young Adult, Child, Preschool, Jews, Mutation, Electroretinography, Retinal Cone Photoreceptor Cells, Humans, Child, Tomography, Optical Coherence, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::4922779177dbe4c4d2a5d999a4f3b8f2
https://pubmed.ncbi.nlm.nih.gov/34703197

المؤلفون: Salem, Hanhan, Koby, Goren, Amit, Rivkin, Faris, Saba, Hani, Nevo, Naama, Dar, Dekel, Shilo, Meir, Liebergall, Oded, Shoseyov, Dan, Deutsch, Anat, Blumenfeld, Amir, Haze

المصدر: Journal of orthopaedic research : official publication of the Orthopaedic Research SocietyREFERENCES. 39(7)

مصطلحات موضوعية: Nerve Endings, Disease Models, Animal, Amelogenin, Drug Evaluation, Preclinical, Animals, Regeneration, Female, Ankle Injuries, Lateral Ligament, Ankle, Recombinant Proteins, Rats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::84bf9ea7e1b78a8ae2b744f85d1cb2d1
https://pubmed.ncbi.nlm.nih.gov/32410235

المؤلفون: Michal Macarov, Karen Hendler, Anat Blumenfeld, Claudia Yahalom, Orly Wussuki-Lior, Samer Khateb, Mordechai Shohat

المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology. 256:2157-2164

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Visual acuity, PAX6 Transcription Factor, genetic structures, Mutation, Missense, Visual Acuity, Vision, Low, 030105 genetics & heredity, Blindness, Refraction, Ocular, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Ophthalmology, Humans, Medicine, Child, Aniridia, Aged, Retrospective Studies, Genetic testing, medicine.diagnostic_test, business.industry, Corectopia, Genetic heterogeneity, Eye Diseases, Hereditary, Middle Aged, medicine.disease, eye diseases, Sensory Systems, Hypoplasia, Pedigree, Phenotype, Child, Preschool, 030221 ophthalmology & optometry, Female, sense organs, PAX6, medicine.symptom, Differential diagnosis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2fccc4f3bac13608bfc16e55cedb6c8
https://doi.org/10.1007/s00417-018-4119-1