المؤلفون: Xing-sheng Dong, Xiao-jun Wen, Sheng Zhang, De-gang Wang, Yi Xiong, Zhi-ming Li

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: WOREE syndrome, Epilepsy, WWOX gene, Discontinuous deletion, Breakpoints, Whole genome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/141f98af919a46e8b28ce642b7eb05d5Test

المؤلفون: Laura Battaglia, Giovanna Scorrano, Rossana Spiaggia, Antonio Basile, Stefano Palmucci, Pietro Valerio Foti, Corrado Spatola, Michele Iacomino, Franco Marinangeli, Elisa Francia, Francesco Comisi, Antonio Corsello, Vincenzo Salpietro, Alessandro Vittori, Emanuele David

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: WWOX, developmental and epileptic encephalopathies (DEEs), WOREE syndrome, SDR domain, brain anomalies, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2023.1301166/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/0a81c05f02d7490c98b72579ef430f3cTest

المؤلفون: Antonella Riva, Giulia Nobile, Thea Giacomini, Marzia Ognibene, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Lino Nobili, Pasquale Striano, Maria Margherita Mancardi, Federico Zara, Michele Iacomino

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: epilepsy, Exome sequencing (ES), WOREE syndrome, array-CGH analysis, WWOX gene, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.847549/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/099c90ae3eb84b298ac7c4f4f605bf83Test

المؤلفون: Riva, Antonella, Nobile, Giulia, Giacomini, Thea, Ognibene, Marzia, Scala, Marcello, Balagura, Ganna, Madia, Francesca, Accogli, Andrea, Romano, Ferruccio, Tortora, Domenico, Severino, Mariasavina, Scudieri, Paolo, Baldassari, Simona, Musante, Ilaria, Uva, Paolo, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Capra, Valeria, Nobili, Lino, Striano, Pasquale, Mancardi, Maria Margherita, Zara, Federico, Iacomino, Michele

المصدر: Riva , A , Nobile , G , Giacomini , T , Ognibene , M , Scala , M , Balagura , G , Madia , F , Accogli , A , Romano , F , Tortora , D , Severino , M , Scudieri , P , Baldassari , S , Musante , I , Uva , P , Salpietro , V , Torella , A , Nigro , V , Capra , V , Nobili , L , Striano , P , Mancardi , M M , Zara , F & Iacomino , M 2022 , ' ....

مصطلحات موضوعية: array-CGH analysis, epilepsy, Exome sequencing (ES), WOREE syndrome, WWOX gene, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://research.vu.nl/en/publications/f5302147-4158-438b-881c-efa6d0503196Test

الإتاحة: https://doi.org/10.3389/fped.2022.847549Test
https://research.vu.nl/en/publications/f5302147-4158-438b-881c-efa6d0503196Test
https://hdl.handle.net/1871.1/f5302147-4158-438b-881c-efa6d0503196Test
http://www.scopus.com/inward/record.url?scp=85130267168&partnerID=8YFLogxKTest
http://www.scopus.com/inward/citedby.url?scp=85130267168&partnerID=8YFLogxKTest

المؤلفون: Srinivasarao Repudi, Irina Kustanovich, Sara Abu‐Swai, Shani Stern, Rami I Aqeilan

المصدر: EMBO Molecular Medicine, Vol 13, Iss 12, Pp n/a-n/a (2021)

مصطلحات موضوعية: AAV9, DEE28, hypomyelination, seizures, WOREE syndrome, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/b0c97a48d8e64ff2bf3b116d611d7e9fTest

المؤلفون: Daniel J Steinberg, Srinivasarao Repudi, Afifa Saleem, Irina Kustanovich, Sergey Viukov, Baraa Abudiab, Ehud Banne, Muhammad Mahajnah, Jacob H Hanna, Shani Stern, Peter L Carlen, Rami I Aqeilan

المصدر: EMBO Molecular Medicine, Vol 13, Iss 8, Pp n/a-n/a (2021)

مصطلحات موضوعية: cerebral organoids, DNA damage, SCAR12, Wnt pathway, WOREE syndrome, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/87977a9dce6149adbe8551e943f5992aTest

المؤلفون: Daniel J. Steinberg, Rami I. Aqeilan

المصدر: Cells; Volume 10; Issue 11; Pages: 3082

مصطلحات موضوعية: WOREE syndrome, SCAR12, brain organoids, knockout, models

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/cells10113082Test

الإتاحة: https://doi.org/10.3390/cells10113082Test

المؤلفون: Michele Iacomino, Simona Baldassari, Yuki Tochigi, Katarzyna Kośla, Francesca Buffelli, Annalaura Torella, Mariasavina Severino, Dario Paladini, Luana Mandarà, Antonella Riva, Marcello Scala, Ganna Balagura, Andrea Accogli, Vincenzo Nigro, Carlo Minetti, Ezio Fulcheri, Federico Zara, Andrzej K. Bednarek, Pasquale Striano, Hiroetsu Suzuki, Vincenzo Salpietro

المصدر: Frontiers in Neuroscience, Vol 14 (2020)

مصطلحات موضوعية: WWOX, WOREE syndrome, neuropathology, animal model, developing brain, cytoskeleton, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fnins.2020.00644/fullTest; https://doaj.org/toc/1662-453XTest

الوصول الحر: https://doaj.org/article/ecbe59a5266242c5aee1486744a8d003Test

المؤلفون: Rami I. Aqeilan, Daniel J. Steinberg

المصدر: Cells, Vol 10, Iss 3082, p 3082 (2021)
Cells

مصطلحات موضوعية: Central Nervous System, WWOX, QH301-705.5, knockout, Context (language use), Review, Biology, Translational Research, Biomedical, 03 medical and health sciences, models, 0302 clinical medicine, Loss of Function Mutation, Animals, Humans, Biology (General), 030304 developmental biology, 0303 health sciences, SCAR12, brain organoids, Chromosomal fragile site, General Medicine, WOREE syndrome, Review article, Disease Models, Animal, WW Domain-Containing Oxidoreductase, Neurodevelopmental Disorders, Neuroscience, 030217 neurology & neurosurgery, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::256d61c107c7a24a7dcd1e2f7e24a49cTest
https://www.mdpi.com/2073-4409/10/11/3082Test

المؤلفون: Antonella Riva, Giulia Nobile, Thea Giacomini, Marzia Ognibene, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Valeria Capra, Lino Nobili, Pasquale Striano, Maria Margherita Mancardi, Federico Zara, Michele Iacomino

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, epilepsy, Exome sequencing (ES), WOREE syndrome, array-CGH analysis, WWOX gene

العلاقة: https://figshare.com/articles/dataset/Table_1_A_Phenotypic-Driven_Approach_for_the_Diagnosis_of_WOREE_Syndrome_docx/19680552Test

الإتاحة: https://doi.org/10.3389/fped.2022.847549.s001Test
https://figshare.com/articles/dataset/Table_1_A_Phenotypic-Driven_Approach_for_the_Diagnosis_of_WOREE_Syndrome_docx/19680552Test