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: Ayelet Zerem, Stephanie Libzon, Liat Ben Sira, Hadas Meirson, Moran Hausman-Kedem, Noam Haviv, Keren Yosovich, Adi Mory, Hagit Baris Feldman, Dorit Lev, Tally Lerman-Sagie, Aviva Fattal-Valevski, Yael Hacohen, Daphna Marom

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b5b371964610af44b2760d47c8a342Test
https://doi.org/10.2139/ssrn.4344633Test

المؤلفون: Eran Cohen‐Barak, Hagit Toledano‐Alhadef, Nada Danial‐Farran, Ido Livneh, Banan Mwassi, Maysa Hriesh, Fadia Zagairy, Chen Gafni‐Amsalem, Husam Bashir, Morad Khayat, Nassim Warrour, Osnat Sher, Daphna Marom, Sergey Postovsky, Tal Dujovny, Michael Ziv, Stavit A. Shalev

المصدر: Experimental Dermatology. 31:775-780

مصطلحات موضوعية: Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, Heterozygote, Neurofibromatosis 1, Neurofibromin 1, Humans, Female, Dermatology, Protein Kinase Inhibitors, Molecular Biology, Biochemistry, GTP-Binding Protein alpha Subunits, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d53c3f7858140003fb986693027ca7Test
https://doi.org/10.1111/exd.14514Test

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: Daphna Marom

المصدر: Child's Nervous System. 36:2489-2496

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, General Medicine, mTORC1, medicine.disease, medicine.disease_cause, Bioinformatics, Pathogenesis, 03 medical and health sciences, Tuberous sclerosis, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Medicine, Hamartoma, Neurology (clinical), TSC1, TSC2, business, Carcinogenesis, 030217 neurology & neurosurgery, PI3K/AKT/mTOR pathway

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f2bb5b5e7f34d4ce00c55afb7a613f68Test
https://doi.org/10.1007/s00381-020-04726-zTest

المؤلفون: Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, Frank Gaunitz, Manuela Morleo, Vincenzo Nigro, Silvia Maitz, Grazia M.S. Mancini, Claudia Ruivenkamp, Eun-Kyung Suk, Tobias Bartolomaeus, Andreas Merkenschlager, Daniel Koboldt, Dennis Bartholomew, Alexander P.A. Stegmann, Margje Sinnema, Irma Duynisveld, Ramona Salvarinova, Simone Race, Bert B.A. de Vries, Aurélien Trimouille, Sophie Naudion, Daphna Marom, Uri Hamiel, Noa Henig, Florence Demurger, Nils Rahner, Enrika Bartels, J. Austin Hamm, Abbey M. Putnam, Richard Person, Rami Abou Jamra, Henry Oppermann

المساهمون: Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M S, Ruivenkamp, Claudia, Suk, Eun-Kyung, Bartolomaeus, Tobia, Merkenschlager, Andrea, Koboldt, Daniel, Bartholomew, Denni, Stegmann, Alexander P A, Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B A, Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nil, Bartels, Enrika, Hamm, J Austin, Putnam, Abbey M, Person, Richard, Abou Jamra, Rami, Oppermann, Henry, Clinical Genetics, MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output

المصدر: Am J Hum Genet
American Journal of Human Genetics, 109(5), 944-952. Cell Press

مصطلحات موضوعية: EXPRESSION, HOMEOSTASIS, de novo, seizure, HOUSEKEEPING FUNCTION, calcium homeostasi, Mutation, Missense, PLASMA-MEMBRANE CA2+-ATPASE, ISOFORMS, ATP2B1, Nervous System Malformations, development delay, abnormal behavior, Plasma Membrane Calcium-Transporting ATPases, CA2+, Report, BINDING, Genetics, Humans, MUTATION, Genetics (clinical), neurodevelopmental disorder, HEK293 Cells, Phenotype, Neurodevelopmental Disorders, intellectual disability

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d947f693563049c89bd43d0274e9d3cTest
http://hdl.handle.net/11591/468935Test

المؤلفون: Raanan Raz, Sagiv Shifman, Gal Meiri, Chen Schtaierman, Tali Gev, Simone G. Shamay-Tsoory, Hagit Baris Feldman, Nirit Bauminger-Zviely, Michal Faroy, Adi Aran, Doron Gothelf, Daphna Marom, Nadav Davidovitch, Illana Gozes, Anat Zaidman Zait, Dalit Ben Yosef, Orit Stolar, Raz Gross, Michal Begin, Yoram Bonneh, Yair Sadaka, Florina Uzefovsky, Ditza A. Zachor, Stephen Z. Levine, Hava Golan, Idan Menashe, Hagit Flusser, Esther Ben-Itzchak, Sandra Israel-Yaacov, Cory Shulman, Arad Kodesh, Lidia V. Gabis, Eynat Gal, Alal Eran, Ayelet Arazi, Ilan Dinstein, Ofer Golan, Analya Michaelovski, Judah Koller, Aviva Mimouni Bloch, Bat-Sheva Hadad, Irit Mor Snir, Eitan Bachmat, Michael Davidovitch, Evan Elliott

المصدر: Journal of Molecular Neuroscience. 70:1303-1312

مصطلحات موضوعية: Adult, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Resource (biology), Databases, Factual, Autism Spectrum Disorder, MEDLINE, Cellular and Molecular Neuroscience, Risk Factors, Surveys and Questionnaires, Outcome Assessment, Health Care, medicine, Humans, Neurochemistry, Pediatricians, Israel, Child, Psychiatry, Outcome measures, General Medicine, medicine.disease, Treatment efficacy, Treatment Outcome, Autism, Psychology, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5248929f6be661ed84c324459acb13cTest
https://doi.org/10.1007/s12031-020-01671-zTest

المؤلفون: Aviva Fattal-Valevski, Liat Ben-Sira, Debora Kidron, Anat Bar-Shira, Shay Ben-Shachar, Moran Hausman-Kedem, Daphna Marom, Rachel Straussberg, Penina Ponger, Gustavo Malinger

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Adult, Collagen Type IV, Male, Pathology, medicine.medical_specialty, Lacunar stroke, Prenatal diagnosis, Penetrance, Article, Leukoencephalopathy, 03 medical and health sciences, Fetus, Prenatal Diagnosis, Genetics, Polymicrogyria, medicine, Humans, cardiovascular diseases, Genetics (clinical), Exome sequencing, Cerebral Hemorrhage, Hemiplegic cerebral palsy, Intracerebral hemorrhage, 0303 health sciences, business.industry, 030305 genetics & heredity, Infant, medicine.disease, Pedigree, Child, Preschool, Female, business, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::182c304d7633b35d0228be97034861dfTest
https://pubmed.ncbi.nlm.nih.gov/33837277Test

المؤلفون: Thuy Anh Vu, Sally Ackermann, Andrew E. Fry, Seok Kyu Kang, Shelagh Joss, Katrien Stouffs, Satoko Miyatake, Katherine A. Fawcett, Ethan M. Goldberg, Elena Parrini, Natalie Hauser, Anna E. Jansen, Daniela T. Pilz, Daphna Marom, Adeline Jacquinet, Katherine L. Helbig, Yuh Fujiwara, Natalie Lippa, Orit Reish, Ingo Helbig, Bruria Ben-Zeev, Shraddha Srinivasan, Pradeep Vasudevan, Renzo Guerrini, Careni Spencer, Lieve Verstraete, Agnieszka Charzewska, Christopher H. Thompson, Jérôme Clatot, Jennifer A. Kearney, David R. FitzPatrick, Haim Bassan, Victoria Harrison, Naomichi Matsumoto, Tariq Zaman, Dorota Hoffman-Zacharska

المساهمون: Clinical sciences, Medical Genetics, Reproduction and Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: Ann Neurol

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Sodium Channels, Article, 03 medical and health sciences, Epilepsy, SCN3A, 0302 clinical medicine, Neurodevelopmental disorder, Fetus, Channelopathy, Intellectual disability, medicine, NAV1.3 Voltage-Gated Sodium Channel, Missense mutation, Humans, Child, Sodium channel, Brain, Genetic Variation, Infant, medicine.disease, Electrophysiology, 030104 developmental biology, HEK293 Cells, Neurology, Neurodevelopmental Disorders, Child, Preschool, Female, Neurology (clinical), Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700d035773de953f5d73c7bf4583cbc9Test
https://orca.cardiff.ac.uk/id/eprint/132507/1/Zaman+et+al+2020+FINAL+Main+Document.pdfTest