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1دورية أكاديمية
المؤلفون: Kyoung Sung Yun, Seung Han Shin, Jaemoon Koh, Jung Min Ko, Jung Yoon Choi, Nam-Joon Yi
المصدر: Pediatric Hematology Oncology Journal, Vol 9, Iss 3, Pp 184-188 (2024)
مصطلحات موضوعية: KBG syndrome, ANKRD11, Hepatoblastoma, Preterm, Case report, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2468124524000524Test; https://doaj.org/toc/2468-1245Test
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2دورية أكاديمية
المؤلفون: Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
المصدر: Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
مصطلحات موضوعية: ANKRD11 gene, genotype–phenotype correlation, neurodevelopment, seizure, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2470-9239Test
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3دورية أكاديمية
المؤلفون: Shuoshuo Wei, Yanying Li, Wanling Yang, Shuxiong Chen, Fupeng Liu, Mei Zhang, Bo Ban, Dongye He
المصدر: Heliyon, Vol 10, Iss 6, Pp e28082- (2024)
مصطلحات موضوعية: KBG syndrome, ANKRD11 gene, Whole-exome sequencing, Frameshift variant, Truncated transcript, Functional assays, Science (General), Q1-390, Social sciences (General), H1-99
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844024041136Test; https://doaj.org/toc/2405-8440Test
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4دورية أكاديمية
المؤلفون: Eoin P. Donnellan, Kathleen M. Gorman, Amre Shahwan, Nicholas M. Allen
المصدر: Epilepsy & Behavior Reports, Vol 25, Iss , Pp 100647- (2024)
مصطلحات موضوعية: KBG syndrome, Epileptic dyskinetic encephalopathy, ANKRD11 gene, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589986424000042Test; https://doaj.org/toc/2589-9864Test
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5دورية أكاديمية
المؤلفون: Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee
المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
مصطلحات موضوعية: 16q24.3, ANKRD11 gene, distinctive craniofacial features, KBG syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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6دورية أكاديمية
المؤلفون: Tadashi Nakagawa, Satoko Hattori, Toru Hosoi, Keiko Nakayama
المصدر: Frontiers in Genetics, Vol 13 (2023)
مصطلحات موضوعية: SETD5, IDD23, ANKRD11, KBG syndrome, mouse model, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.1022339/fullTest; https://doaj.org/toc/1664-8021Test
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7دورية أكاديمية
المؤلفون: Buijsse, Nathan, Jansen, Floor E, Ockeloen, Charlotte W, van Kempen, Marjan J A, Zeidler, Shimriet, Willemsen, Marjolein H, Scarano, Emanuela, Monticone, Sonia, Zonneveld-Huijssoon, Evelien, Low, Karen J, Bayat, Allan, Sisodiya, Sanjay M, Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C, Verbeek, Nienke E, Kleefstra, Tjitske, Brilstra, Eva H, Vlaskamp, Danique R M
المساهمون: Neurologen, Brain, Genetica Oper. Mangt Genoom Diagnostiek, Child Health, Genetica Klinische Genetica, Arts-assistenten Kinderen
مصطلحات موضوعية: ANKRD11 gene, genotype–phenotype correlation, neurodevelopment, seizure, Clinical Neurology, Neurology, Journal Article
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: Meng Yuan, Megan E. Barefoot, Kendell Peterson, Moray J. Campbell, Jan K. Blancato, Manjing Chen, Marcel O. Schmidt, Amber J. Kiliti, Hong-Bin Fang, Anton Wellstein, Anna T. Riegel, Ghada M. Sharif
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14, p 11505 (2023)
مصطلحات موضوعية: ANCO1, ANKRD11, TNBC, tumor suppressor, breast cancer enhancer, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/24/14/11505Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/731f6f45698445b488acd5c081e12c32Test
الإتاحة: https://doi.org/10.3390/ijms241411505Test
https://doaj.org/article/731f6f45698445b488acd5c081e12c32Test -
9دورية أكاديمية
المؤلفون: Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma
المصدر: Bestetti , I , Crippa , M , Sironi , A , Tumiatti , F , Masciadri , M , Smeland , M F , Naik , S , Murch , O , Bonati , M T , Spano , A , Cattaneo , E , Mariani , M , Gotta , F , Crosti , F , Cavalli , P , Pantaleoni , C , Natacci , F , Bedeschi , M F , Milani , D , Maitz , S , Selicorni , A , Spaccini , L , Peron , A , Russo , S , ....
مصطلحات موضوعية: ANKRD11 gene expression analysis, ANKRD11 variations, diagnostic flow chart, KBG syndrome
الإتاحة: https://doi.org/10.3390/ijms23115912Test
https://hdl.handle.net/1983/c547977e-17ac-4b4f-a411-2155ab2cd1f2Test
https://research-information.bris.ac.uk/en/publications/c547977e-17ac-4b4f-a411-2155ab2cd1f2Test
http://www.scopus.com/inward/record.url?scp=85130794381&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 11; Pages: 5912
مصطلحات موضوعية: KBG syndrome, ANKRD11 variations, diagnostic flow chart, ANKRD11 gene expression analysis
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23115912Test