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1دورية أكاديمية
المؤلفون: Dina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, May Christine V. Malicdan, Yair Anikster
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: Hermansky–Pudlak syndrome, HPS-3, HPS3, oculocutaneous albinism, Ashkenazi Jewish, deletion, Genetics, QH426-470
وصف الملف: electronic resource
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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
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المصدر: Prenatal Diagnosis. 41:1066-1073
مصطلحات موضوعية: Adult, Parents, medicine.medical_specialty, Attitude of Health Personnel, Health Personnel, Genetic counseling, Prenatal diagnosis, Prenatal care, Choice Behavior, Pregnancy, Parental autonomy, Surveys and Questionnaires, medicine, Humans, Clinical significance, Genetic Testing, Genetics (clinical), business.industry, Uncertainty, Obstetrics and Gynecology, medicine.disease, Family medicine, Susceptibility locus, Female, business, Fetal medicine
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المؤلفون: Claudia Yahalom, Avital Eilat, Michal Macarov, Nina Schneider
المصدر: Journal of Genetic Counseling
مصطلحات موضوعية: medicine.medical_specialty, Telemedicine, Eye Diseases, Genetic counseling, Visual impairment, COVID‐19, Pandemic, medicine, Humans, Young adult, Israel, Personal protective equipment, Pandemics, Genetics (clinical), genetic counseling, business.industry, Special Issue, Risk of infection, COVID-19, inherited eye disease, Family medicine, Communicable Disease Control, medicine.symptom, business, Developed country, Specialty Clinics
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المؤلفون: Vitalia Libman, Michal Macarov, Yechiel Friedlander, Sidra Goldman‐Mellor, Salomon Israel, Drorith Hochner‐Celnikier, Yishai Sompolinsky, Uri Pinchas Dior, Michael Osovsky, Lina Basel‐Salmon, Arnon Wiznitzer, Yehuda Neumark, Vardiella Meiner, Ayala Frumkin, Shiri Shkedi‐Rafid, Hagit Hochner
المصدر: Prenatal diagnosis. 42(8)
مصطلحات موضوعية: Adult, Parents, Health Knowledge, Attitudes, Practice, Pregnancy, Postpartum Period, Obstetrics and Gynecology, Humans, Female, Prenatal Care, Disclosure, Genetics (clinical)
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6
المؤلفون: Michal Macarov, Yoel Hirsch, Karen B. Avraham, Josef Ekstein, Cynthia C. Morton, Richard J.H. Smith, Devorah Yefet, Jun Shen, Tzvi Weiden, Chantal Farra, Diana L. Kolbe, Kevin T. Booth, John Pappas, Rachel Rabin, Carla Nishimura, Minjie Luo, Chayada Tangshewinsirikul, Andrea M. Oza, Zippora Brownstein, Adina Quint, Katherine A Lafferty, Kathy L. Frees, Sami S. Amr, Sholem Y. Scher, Margaret A. Kenna, Bella Davidov, Hela Azaiez, Heidi L. Rehm
المصدر: Eur J Hum Genet
Hirsch, Y, Tangshewinsirikul, C, Booth, K T, Azaiez, H, Yefet, D, Quint, A, Weiden, T, Brownstein, Z, Macarov, M, Davidov, B, Pappas, J, Rabin, R, Kenna, M A, Oza, A M, Lafferty, K, Amr, S S, Rehm, H L, Kolbe, D L, Frees, K, Nishimura, C, Luo, M, Farra, C, Morton, C C, Scher, S Y, Ekstein, J, Avraham, K B, Smith, R J H & Shen, J 2021, ' A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-020-00790-wمصطلحات موضوعية: Adult, Male, MYO15A, Adolescent, Hearing loss, RNA Splicing, Population, Genes, Recessive, Myosins, Biology, Compound heterozygosity, Article, 03 medical and health sciences, Gene Frequency, Genetics, medicine, Humans, Child, Hearing Loss, education, Genetics (clinical), Genetic testing, 0303 health sciences, education.field_of_study, medicine.diagnostic_test, Genetic heterogeneity, 030305 genetics & heredity, Infant, medicine.disease, Phenotype, Pedigree, Child, Preschool, Jews, Mutation, Female, Sensorineural hearing loss, medicine.symptom
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
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المؤلفون: Mor Hanany, Oded Volovelsky, Claudia Yahalom, Michal Macarov, Alaa AlTalbishi, Muhammad Imran Khan, Dror Sharon, Irene Anteby, Samer Khateb, Frans P.M. Cremers, Yahya Alsweiti, Eyal Banin, Nina Schneider
المصدر: Retina-The Journal of Retinal and Vitreous Diseases, 41, 10, pp. 2179-2187
Retina-The Journal of Retinal and Vitreous Diseases, 41, 2179-2187مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, Pediatrics, DNA Mutational Analysis, Leber Congenital Amaurosis, 030232 urology & nephrology, Visual Acuity, medicine.disease_cause, Genetic analysis, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, Child, Sanger sequencing, Mutation, Color Perception Tests, General Medicine, Kidney Diseases, Cystic, Middle Aged, Pedigree, Phenotype, Molecular Diagnostic Techniques, Child, Preschool, Cohort, symbols, Female, medicine.medical_specialty, Adolescent, Senior–Løken syndrome, Retina, 03 medical and health sciences, symbols.namesake, Young Adult, Optic Atrophies, Hereditary, Retinitis pigmentosa, Exome Sequencing, medicine, Electroretinography, Humans, Adaptor Proteins, Signal Transducing, Retrospective Studies, business.industry, Infant, Proteins, Retrospective cohort study, medicine.disease, Ciliopathies, Ophthalmology, Cytoskeletal Proteins, 030104 developmental biology, Visual Field Tests, Calmodulin-Binding Proteins, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8573dc79d5d0126e6db7a5209bd64858
https://hdl.handle.net/2066/237903 -
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المؤلفون: Mor Hanany, Nadav Levinger, Karen Hendler, Yoav Parag, Claudia Yahalom, Dror Sharon, Vardiella Meiner, Adva Kimchi, Eyal Banin, Hadas Mechoulam, Michal Macarov
المصدر: European Journal of Ophthalmology. 31:3349-3354
مصطلحات موضوعية: Retina, medicine.medical_specialty, Occipital encephalocele, genetic structures, business.industry, High myopia, Retinal detachment, Knobloch syndrome, General Medicine, medicine.disease, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, medicine.anatomical_structure, Variable phenotype, 030221 ophthalmology & optometry, medicine, Pediatric ophthalmology, sense organs, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::02f8879706af5621f03b707c654e9ca8
https://doi.org/10.1177/1120672120977343 -
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المؤلفون: Tom Walsh, Silvia Casadei, Ofer Isakov, Mary Claire King, Matthew W. Kelley, Noa Ruhrman-Shahar, Eiríkur Steingrímsson, Maria Birkan, Mor Bordeynik-Cohen, Ronna Hertzano, Nadra Samra, Morad Khayat, Nada Danial-Farran, Naama Zvi, Zippora Brownstein, Moshe Frydman, Elon Pras, Ophir Handzel, Moien Kanaan, Fabio Tadeu Arrojo Martins, Michal Macarov, Noam Shomron, Asgeir O. Arnthorsson, Bella Davidov, Doaa Ali-Naffaa, Michal Sagi, Lara Kamal, Reuven Sharony, Lina Basel-Salmon, Ming K. Lee, Meirav Sokolov, Weise Chang, Ory Madgar, Michael Wolf, Dorit Lev, Karen B. Avraham, Hagit Baris-Feldman, Dror Gilony, Ryan J. Carlson, Hana Poran, Noga Lipschitz, Shahar Taiber, Suleyman Gulsuner, Amal Abu-Rayyan, Stavit Allon-Shalev, Chana Vinkler, Amihood Singer, Amir Peleg, Efrat Sofrin‐Drucker, Mordechai Shohat
المصدر: Clin Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Hearing loss, Genetic counseling, Population, Genomics, Deafness, 030105 genetics & heredity, Biology, Article, Young Adult, 03 medical and health sciences, Genotype, Basic Helix-Loop-Helix Transcription Factors, otorhinolaryngologic diseases, Genetics, medicine, Humans, Genetic Predisposition to Disease, Israel, Allele, Child, Hearing Loss, education, Genetic Association Studies, Genetics (clinical), Newborn screening, education.field_of_study, Massive parallel sequencing, Pedigree, 030104 developmental biology, Child, Preschool, Jews, Female, medicine.symptom
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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
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