المؤلفون: Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans vanBokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1080-1089 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/e325a36924f6490ca000078333d8a8e5Test

المؤلفون: Merav Birk-Bachar, Hadar Cohen, Efrat Sofrin-Drucker, Nesia Kropach-Gilad, Naama Orenstein, Gabriel Lidzbarsky, Liora Kornreich, Rotem Tal, Gil Amarilyo, Yoel Levinsky, Meirav Sokolov, Eyal Raveh, Motti Gerlic, Liora Harel

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::002ff43c275b94bffaed968a3afa8a1bTest
https://doi.org/10.1101/2023.05.05.23289337Test

المؤلفون: Yael Lebenthal, Sigal Levy, Efrat Sofrin-Drucker, Nessia Nagelberg, Naomi Weintrob, Shlomit Shalitin, Liat de Vries, Ariel Tenenbaum, Moshe Phillip, Liora Lazar

المصدر: Frontiers in Endocrinology, Vol 9 (2018)

مصطلحات موضوعية: Turner syndrome, karyotype, metabolic disturbances, obesity, impaired glucose metabolism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fendo.2018.00027/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/e492f9611bf4463fa797f3dee9d82fdbTest

المؤلفون: Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, S. A. Gulieva, Maha S. Zaki, Noa Zunz Henig, Karine Siquier, Ulviyya Guliyeva, Samir Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans van Bokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian

مصطلحات موضوعية: Molecular Basis of Rett Syndrome and Related Disorders, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Standards and Guidelines for Genetic Variant Interpretation, Glycogen Metabolism and Myoclonic Disorders, Rheumatology, Medicine, Health Sciences, Exome Sequencing, Endoplasmic reticulum, Exome sequencing, Loss function, Protein subunit, Exome, Function biology, Computational biology, Cell biology, Bioinformatics, FOS Computer and information sciences, Gene, Mutation, Biology, Phenotype

العلاقة: https://dx.doi.org/10.60692/qk01s-zp546Test

الإتاحة: https://doi.org/10.60692/xwc37-n5r6010.60692/qk01s-zp546Test

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

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84df7512b560e32da80d89b20de85d7Test
https://doi.org/10.1111/cge.13817Test

المؤلفون: Delphine Héron, Wendy Mears, Smrithi Salian, William Boyce Burns, Julia Russo, Elliot S. Stolerman, Valentina Serpieri, David A. Dyment, Philippe M. Campeau, Susanne Morlot, Kristin Herman, Thi Tuyet Mai Nguyen, Ginevra Zanni, Boris Keren, Rachel Rock, Raffaella Cusmai, Efrat Sofrin-Drucker, Hannah Wallaschek, Alison M.R. Castle, Julie R. Jones, Devon L. Johnstone, Haim Bassan

المساهمون: Children's Hospital of Eastern Ontario, CHU Sainte Justine [Montréal], Tel Aviv University [Tel Aviv], University of California, Bambino Gesù Children’s Hospital [Rome, Italy], Centre de référence Déficiences Intellectuelles de Causes Rares [CHU Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique médicale [CHU Pitié-Salpêtrière], Hannover Medical School [Hannover] (MHH), BC Children's Hospital Research Institute [Vancouver, BC, Canada] (BCCHR), University of British Columbia (UBC), The Greenwood Genetic Center, University of Pavia, IRCCS Mondino Foundation

المصدر: Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2021, 7 (6), pp.e631. ⟨10.1212/NXG.0000000000000631⟩

مصطلحات موضوعية: Genetics, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, medicine.diagnostic_test, Glycosylphosphatidylinositol, Developmental disorders, Biology, Phenotype, Hypotonia, Clinical knowledge, Flow cytometry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, Neuroimaging, All Genetics, medicine, Alkaline phosphatase, Neurology (clinical), Functional studies, medicine.symptom, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35b417666bc25381eeb42bc61aaf37fTest
https://hal.sorbonne-universite.fr/hal-03409007Test

المؤلفون: Alison M R, Castle, Smrithi, Salian, Haim, Bassan, Efrat, Sofrin-Drucker, Raffaella, Cusmai, Kristin C, Herman, Delphine, Heron, Boris, Keren, Devon L, Johnstone, Wendy, Mears, Susanne, Morlot, Thi Tuyet Mai, Nguyen, Rachel, Rock, Elliot, Stolerman, Julia, Russo, William Boyce, Burns, Julie R, Jones, Valentina, Serpieri, Hannah, Wallaschek, Ginevra, Zanni, David A, Dyment, Philippe M, Campeau

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::afde4b50de755eebf07828956cdae117Test
https://pubmed.ncbi.nlm.nih.gov/34703884Test

المؤلفون: Chana Vinkler, Lena Sagi-Dain, Amir Peleg, Shay Ben-Shachar, Lina Basel-Salmon, Rivka Sukenik-Halevy, Idit Maya, Yael Goldberg, Efrat Sofrin-Drucker, Ben Yehoshua Sagi Josefsberg, Z. Appelman

المصدر: Human Genetics. 138:1145-1153

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, Developmental Disabilities, Genetic counseling, Chromosome Disorders, Context (language use), Biology, Short stature, Young Adult, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Chromosomes, Human, Pair 13, 030305 genetics & heredity, Infant, Newborn, Infant, medicine.disease, Human genetics, Hypotonia, Chromosome Banding, Phenotype, Child, Preschool, Female, Chromosome Deletion, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6964f49924898429bdff687cc0142bebTest
https://doi.org/10.1007/s00439-019-02048-yTest

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