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: Shahnaz Kausar Yousuf, Sajida naz, Ejaz Asghar, Saima Maratab, Sajida Mahmood

المصدر: Multicultural Education 8(4) 88

مصطلحات موضوعية: Parent-Child Interaction Therapy (PCIT), Regular Speech Therapy Sessions (RSTS), Behavioral Problems, Language Problems

العلاقة: https://zenodo.org/record/6450339Test; https://doi.org/10.5281/zenodo.6450339Test; oai:zenodo.org:6450339

الإتاحة: https://doi.org/10.5281/zenodo.6450339Test
https://doi.org/10.5281/zenodo.6450338Test
https://zenodo.org/record/6450339Test

المؤلفون: Melanie Schoof, Michael Launspach, Dörthe Holdhof, Lynhda Nguyen, Verena Engel, Severin Filser, Finn Peters, Jana Immenschuh, Malte Hellwig, Judith Niesen, Volker Mall, Birgit Ertl-Wagner, Christian Hagel, Michael Spohn, Beat Lutz, Jan Sedlacik, Daniela Indenbirken, Daniel J. Merk, Ulrich Schüller

المصدر: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-19 (2019)

مصطلحات موضوعية: Creb binding protein (CREBBP, CBP), Rubinstein-Taybi syndrome (RSTS), Neural precursor cell migration, Adult neurogenesis, Neural differentiation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/6ca04c132be94fa7b691ec045f179d0fTest

المؤلفون: María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: RSTS, EP300-Rubinstein-Taybi, Broad thumbs, Intellectual disability, EP300-mutations, EP300-RSTS-phenotype, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12881-018-0548-2Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/a134cbfb26ba4247aa62eca80e8b71b8Test

المؤلفون: Hee Jeong Yoo, Kyung Kim, In Hyang Kim, Seong-Hwan Rho, Jong-Eun Park, Ki Young Lee, Soon Ae Kim, Byung Yoon Choi, Namshin Kim

المصدر: International Journal of Molecular Sciences, Vol 16, Iss 3, Pp 5697-5713 (2015)

مصطلحات موضوعية: Rubinstein-Taybi syndrome (RSTS), Autism spectrum disorder (ASD), de novo variants, Tenascin C (TNC) gene, insulin-like growth factor-binding protein, acid labile subunit (IGFALS) gene, CREB (cAMP response element binding protein) binding protein (CREBBP) gene, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: http://www.mdpi.com/1422-0067/16/3/5697Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/2ad6a20b3cb84180a45e4cc0a5a744beTest

المؤلفون: López, María, Seidel, Verónica, Santibáñez, Paula, Cervera-Acedo, Cristina, Castro-de Castro, Pedro, Domínguez-Garrido, Elena

مصطلحات موضوعية: Rubinstein-Taybi syndrome, RSTS, EP300, Inheritance, Familial-RSTS, Case report

العلاقة: http://www.biomedcentral.com/1471-2350/17/97Test

الإتاحة: http://www.biomedcentral.com/1471-2350/17/97Test

المؤلفون: Menke, Leonie A., van Belzen, Martine J., Alders, Marielle, Cristofoli, Francesca, Ehmke, Nadja, Fergelot, Patricia, Foster, Alison, Gerkes, Erica H., Hoffer, Mariette J. V., Horn, Denise, Kant, Sarina G., Lacombe, Didier, Leon, Eyby, Maas, Saskia M., Melis, Daniela, Muto, Valentina, Park, Soo-Mi, Peeters, Hilde, Peters, Dorien J. M., Pfundt, Rolph, van Ravenswaaij-Arts, Conny M. A., Tartaglia, Marco, Hennekam, Raoul C. M.

المصدر: Menke , L A , van Belzen , M J , Alders , M , Cristofoli , F , Ehmke , N , Fergelot , P , Foster , A , Gerkes , E H , Hoffer , M J V , Horn , D , Kant , S G , Lacombe , D , Leon , E , Maas , S M , Melis , D , Muto , V , Park , S-M , Peeters , H , Peters , D J M , Pfundt , R , van Ravenswaaij-Arts , C M A , Tartaglia , ....

مصطلحات موضوعية: CREBBP, exon 30, exon 31, whole exome sequencing, intellectual disability, Rubinstein-Taybi syndrome, RSTS, syndrome, mutation, clinical features, case series, genotype-phenotype correlation, CBP, SPECTRUM, MISSENSE, DISEASE, DOMAIN, ZZ

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/7efb5ad6-e0d2-497a-b453-f3c9956610feTest

الإتاحة: https://doi.org/10.1002/ajmg.a.37800Test
https://hdl.handle.net/11370/7efb5ad6-e0d2-497a-b453-f3c9956610feTest
https://research.rug.nl/en/publications/7efb5ad6-e0d2-497a-b453-f3c9956610feTest
https://pure.rug.nl/ws/files/102693839/CREBBP_mutations_in_individuals_without_Rubinstein_Taybi_syndrome_phenotype.pdfTest

المؤلفون: Jamileh Malbin

المصدر: International Journal of Genetic Medicine and Gene Therapy. :15-20

مصطلحات موضوعية: musculoskeletal diseases, Genetics, business.industry, CREBBP, medicine.disease, Broad thumb and toes, Phenotype, body regions, Intellectual disability, Rubinstein-Taybi Syndrome (RSTS), Medicine, CREBBP gene, business, SHANK3

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::361afce2a1409c584e063a9d83f6e4abTest
https://doi.org/10.36811/ijgmgt.2019.110004Test

المؤلفون: Liu S., Aldinger K. A., Cheng C. V., Kiyama T., Dave M., McNamara H. K., Zhao W., Stafford J. M., Descostes N., Lee P., Caraffi S. G., Ivanovski I., Errichiello E., Zweier C., Zuffardi O., Schneider M., Papavasiliou A. S., Perry M. S., Humberson J., Cho M. T., Weber A., Swale A., Badea T. C., Mao C. -A., Garavelli L., Dobyns W. B., Reinberg D.

المساهمون: Liu, S., Aldinger, K. A., Cheng, C. V., Kiyama, T., Dave, M., Mcnamara, H. K., Zhao, W., Stafford, J. M., Descostes, N., Lee, P., Caraffi, S. G., Ivanovski, I., Errichiello, E., Zweier, C., Zuffardi, O., Schneider, M., Papavasiliou, A. S., Perry, M. S., Humberson, J., Cho, M. T., Weber, A., Swale, A., Badea, T. C., Mao, C. -A., Garavelli, L., Dobyns, W. B., Reinberg, D.

مصطلحات موضوعية: active transcription, AUTS2, brain development, ncPRC1.3, NRF1, P300, polycomb, RSTS, Animal, Brain, CREB-Binding Protein, Cell Differentiation, Chromatin, Cytoskeletal Protein, E1A-Associated p300 Protein, Embryonic Stem Cell, Female, Genomic, HEK293 Cell, Heterozygote, Human, Male, Mice, Neuron, Nuclear Respiratory Factor 1, Protein Binding, Protein Domain, Proteomic, Transcription Factor, Transcriptional Activation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34637754; info:eu-repo/semantics/altIdentifier/wos/WOS:000720905700001; volume:81; issue:22; firstpage:4663; lastpage:4676.e8; journal:MOLECULAR CELL; http://hdl.handle.net/11571/1451383Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119089779

الإتاحة: https://doi.org/10.1016/j.molcel.2021.09.020Test
http://hdl.handle.net/11571/1451383Test

المؤلفون: Lisboa, Isabel C, Queirós, Sandra, Miguel, Helga, Sampaio, Adriana, Santos, Jorge A., Pereira, Alfredo F

مصطلحات موضوعية: Biological motion, fNIRS, Neurodevelopment, Scrambled Point-Light-Walker, Right Superior Temporal Sulcus (rSTS), Ciências Sociais::Psicologia, Social Sciences

وصف الملف: application/pdf

العلاقة: https://www.sciencedirect.com/science/article/pii/S016363831930178XTest; Lisboa, I. C., Queirós, S., Miguel, H., Sampaio, A., Santos, J. A., & Pereira, A. F. (2020). Infants’ cortical processing of biological motion configuration – A fNIRS study. Infant Behavior and Development, 60, 101450. doi: https://doi.org/10.1016/j.infbeh.2020.101450Test; http://hdl.handle.net/1822/72365Test

الإتاحة: https://doi.org/10.1016/j.infbeh.2020.101450Test
http://hdl.handle.net/1822/72365Test