المؤلفون: Amara, Pavan

المصدر: Learning Disability Practice; Feb2024, Vol. 27 Issue 1, p10-13, 4p

مصطلحات موضوعية: DE Lange's syndrome, SOCIAL support, ANGELMAN syndrome, RUBINSTEIN-Taybi syndrome, FAMILIES, GENETIC disorders, PRADER-Willi syndrome, NURSING education, CHILD psychopathology, LEARNING disabilities, NURSES, FRAGILE X syndrome, INTELLECTUAL disabilities

مصطلحات جغرافية: UNITED Kingdom

المؤلفون: Yeager, Ashley N, Watterson, Christopher T, Hall, Theodore R

المصدر: UCLA Radiological Sciences Proceedings. 3(1)

مصطلحات موضوعية: colonic atresia, Rubinstein-Taybi syndrome, barium enema, bowel

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/58f183j6Test

المؤلفون: Spandana M, Sneh Kumar, Chitturi Venkata Sai Akhil, Sham Lohiya, Shubhangi Patil Ganvir

المصدر: Romanian Journal of Pediatrics, Vol 72, Iss 4, Pp 194-197 (2023)

مصطلحات موضوعية: rubinstein-taybi syndrome, polydactyly, intellectual disability, broad thumb hallux syndrome, dysmorphic facies, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://rjp.com.ro/articles/2023.4/RJP_2023_4_Art-09.pdfTest; https://doaj.org/toc/1454-0398Test; https://doaj.org/toc/2069-6175Test

الوصول الحر: https://doaj.org/article/d57983fb0b734256be8072943238d08eTest

المؤلفون: Hua Wang, Ann Ly

المصدر: Neonatology Today; Dec2023, Vol. 18 Issue 12, p165-170, 6p

مصطلحات موضوعية: RESPIRATORY insufficiency, SEQUENCE analysis, CEREBROVASCULAR disease, RUBINSTEIN-Taybi syndrome, BASAL ganglia diseases, GENE expression, HEAD, GENOTYPES, PHENOTYPES

المؤلفون: Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone

المصدر: Genes, Vol 15, Iss 6, p 654 (2024)

مصطلحات موضوعية: creb binding protein, Rubinstein–Taybi syndrome, mosaicism, correlations, genotype–phenotype, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/6/654Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/1df214b48c5442b0bb0bd71607ee6b2dTest

المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C. E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Simarro, Fernando Santos, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

المساهمون: S. Haghshena, H.J. Bout, J.M. Schijn, M.A. Levy, J. Kerkhof, P. Bhai, H. Mcconkey, Z.A. Jenkin, E.M. William, B.J. Halliday, S.A. Huisman, P. Lauffer, V. de Waard, L. Witteveen, S. Banka, A.F. Brady, E. Galazzi, J. van Gil, A.C.E. Hurst, F.J. Kaiser, D. Lacombe, A.F. Martinez-Monseny, P. Fergelot, F.P. Monteiro, I. Parenti, L. Persani, F.S. Simarro, B.N. Simpson, M. Alder, S.P. Robertson, B. Sadikovic, L.A. Menke

مصطلحات موضوعية: CBP, CREB-binding protein, CREBBP, DNA methylation, E1A-associated protein p300, EP300, ID4, MKHK, Menke-Hennekam syndrome, RSTS, Rubinstein-Taybi syndrome, TAZ2, ZZ, episignature, intellectual disability, intrinsically disordered linker, p300, zinc finger domain, Settore MED/13 - Endocrinologia, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38553851; volume:5; issue:3; firstpage:1; lastpage:19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/2434/1043590Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100287Test
https://hdl.handle.net/2434/1043590Test

المؤلفون: Yusuke Kawano, MD, PhD, Atsuhito Seki, MD, PhD, Takashi Kuroiwa, MD, PhD, Atsushi Maeda, MD, Takuya Funahashi, MD, PhD, Kanae Shizu, MD, PhD, Katsuji Suzuki, MD, PhD, Hidehito Inagaki, PhD, Hiroki Kurahashi, PhD, Nobuyuki Fujita, MD, PhD

المصدر: JSES International, Vol 7, Iss 4, Pp 714-718 (2023)

مصطلحات موضوعية: Elbow dislocation, Elbow instability, Rubinstein-Taybi syndrome, CREBBP, Posterior instability, Genetic disease, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666638323001044Test; https://doaj.org/toc/2666-6383Test

الوصول الحر: https://doaj.org/article/9e49c1bc596c4418b3433c77a0adba54Test

المؤلفون: Park, Jong Eun¹, Kim, Eunmi², Lee, Dong-Won², Park, Taek Kyu³, Kim, Min Sun⁴, Jang, Shin Yi³, Ahn, Jaemyung⁵, Park, Kwang Bo⁶, Kim, Keon-Ha⁶, Park, Hae-Chul² hcpark67@korea.ac.kr, Ki, Chang-Seok⁷ changski.md@gmail.com, Kim, Duk-Kyung³

المصدر: Scientific Reports. 8/5/2021, Vol. 11 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *RUBINSTEIN-Taybi syndrome, *VASCULAR diseases, *GENETIC mutation, *CHROMATIN, *CELL proliferation

المؤلفون: Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: EP300 gene, Early onset high myopia, Phenotype, Rubinstein-Taybi syndrome 2, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/4233d8c88e5f4a66b53509fa79f87fa6Test

المؤلفون: Zhouxian Bai, Gaopan Li, Xiangdong Kong

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

مصطلحات موضوعية: EP300, Novel mutation, Atypical Rubinstein–Taybi syndrome, Immunodeficiency, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/77366f2ebdac43679fc52c20e46d86b0Test