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1دورية أكاديمية
المؤلفون: Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Orna Staretz-Chacham, Naomi Pode-Shakked, Lily Bazak, Noa Ruhrman-Shahar, Elon Pras, Moshe Frydman, Mordechai Shohat, Ben Pode-Shakked
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: KMT5B, intellectual disability, developmental delay, de novo, macrocephaly, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.844845/fullTest; https://doaj.org/toc/2296-2360Test
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المؤلفون: Naama Oresntein, Arie Koifman, Efrat Sofrin-Drucker, Adi Reches, Noa Rhurman-Shahar, Gal Zaks-Hoffer, Nurit Magal, Doron M. Behar, Yael Goldberg, Daphna Marom, Mordechai Shohat, Lina Basel-Salmon, Noa Shefer Averbuch, Lily Bazak, Reut Matar, Sagi Josefberg, Nesia Kropach-Gilad, Rachel Michaelson-Cohen, Rivka Sukenik-Halevy, Avi Fellner, Liat Salzer-Sheelo, Monika Weiss-Hubshmann, Idit Maya
المصدر: Genetics in Medicine. 22:1703-1709
مصطلحات موضوعية: medicine.medical_specialty, business.industry, media_common.quotation_subject, Tertiary care, Literacy, Clinical Practice, Knowledge change, Family medicine, Program completion, Medicine, Genomic medicine, business, Genetics (clinical), media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a0d192c9c4ae452d21066ee1b9e6279Test
https://doi.org/10.1038/s41436-020-0868-4Test -
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المؤلفون: Aviva, Eliyahu, Ortal, Barel, Lior, Greenbaum, Gal, Zaks Hoffer, Yael, Goldberg, Annick, Raas-Rothschild, Amihood, Singer, Ifat, Bar-Joseph, Vered, Kunik, Elisheva, Javasky, Orna, Staretz-Chacham, Naomi, Pode-Shakked, Lily, Bazak, Noa, Ruhrman-Shahar, Elon, Pras, Moshe, Frydman, Mordechai, Shohat, Ben, Pode-Shakked
المصدر: Frontiers in pediatrics. 10
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4823067e2b7db4db98e17ba7bb2a28f2Test
https://pubmed.ncbi.nlm.nih.gov/35433545Test -
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المؤلفون: Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Orna Staretz-Chacham, Naomi Pode-Shakked, Lily Bazak, Noa Ruhrman-Shahar, Elon Pras, Moshe Frydman, Mordechai Shohat, Ben Pode-Shakked
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, KMT5B, intellectual disability, developmental delay, de novo, macrocephaly
الإتاحة: https://doi.org/10.3389/fped.2022.844845.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Refining_the_Phenotypic_Spectrum_of_KMT5B-Associated_Developmental_Delay_docx/19452194Test -
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المؤلفون: Patrick Stafler, Dario Prais, Hadas Mantin, Ophir Bar-On, Haim Ben-Zvi, Huda Mussaffi, Meir Mei-Zahav, Hagit Levine, Hannah Blau, Oded Scheuerman, Gal Zaks-Hoffer, Guy Steuer
المصدر: Pediatric pulmonologyREFERENCES. 55(12)
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Lung Diseases, Male, medicine.medical_specialty, Microbiological culture, Cystic Fibrosis, Induced sputum, medicine.disease_cause, Cystic fibrosis, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Humans, Prospective Studies, Prospective cohort study, Child, Retrospective Studies, Lung, Suppuration, Bacteria, business.industry, Pseudomonas aeruginosa, Infant, Newborn, Sputum, Infant, medicine.disease, Anti-Bacterial Agents, medicine.anatomical_structure, 030228 respiratory system, Staphylococcus aureus, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::289dd4dc0e5cc804328545fd24684d8fTest
https://pubmed.ncbi.nlm.nih.gov/33006230Test -
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المؤلفون: Rachel, Michaelson-Cohen, Liat, Salzer-Sheelo, Rivka, Sukenik-Halevy, Arie, Koifman, Avi, Fellner, Adi, Reches, Daphna, Marom, Doron M, Behar, Efrat, Sofrin-Drucker, Gal, Zaks-Hoffer, Monika, Weiss-Hubshmann, Naama, Oresntein, Nesia, Kropach-Gilad, Noa, Rhurman-Shahar, Noa Shefer, Averbuch, Nurit, Magal, Lily, Bazak, Sagi, Josefberg, Reut, Matar, Yael, Goldberg, Mordechai, Shohat, Lina, Basel-Salmon, Idit, Maya
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(10)
مصطلحات موضوعية: Tertiary Care Centers, Surveys and Questionnaires, Internship and Residency, Medicine, Genomics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0cb7c00588d29e5e4d0d525d40f452dcTest
https://pubmed.ncbi.nlm.nih.gov/32616942Test -
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المؤلفون: Ludmyla Kachko, Liora Harel, Ron Dabby, Yoram Nevo, Gil Amarilyo, Amir Dori, Iris Shinkarevsky Fleitman, Malcolm Rabie, Sharon Aharoni, Nancy Agmon-Levin, Gal Zaks Hoffer
المصدر: MusclenerveREFERENCES. 61(6)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Adolescent, Physiology, Small Fiber Neuropathy, Familial Mediterranean fever, 030105 genetics & heredity, Autoimmune Diseases, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Erythromelalgia, Physiology (medical), medicine, Humans, Child, Retrospective Studies, Inflammation, medicine.diagnostic_test, business.industry, Syndrome, medicine.disease, Autoinflammatory Syndrome, MEFV, Dermatology, Skin biopsy, Neuropathic pain, Etiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465ee82b3a8ca5a9fa4aae8789465facTest
https://pubmed.ncbi.nlm.nih.gov/32133669Test