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

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
BMC Medical Genetics
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Pediatrics, Intellectual disability, 030105 genetics & heredity, Cohort Studies, Neurodevelopmental disorder, Medicine, Missense mutation, Child, Frameshift Mutation, Genetics (clinical), Sequence Deletion, Rubinstein-Taybi Syndrome, EP300, EP300-Rubinstein-Taybi, CREB-Binding Protein, Phenotype, Codon, Nonsense, Child, Preschool, Broad thumbs, Female, Research Article, medicine.medical_specialty, lcsh:Internal medicine, Adolescent, lcsh:QH426-470, RNA Splicing, Mutation, Missense, EP300-mutations, Frameshift mutation, Young Adult, 03 medical and health sciences, RSTS-2, Genetics, Humans, Genetic Testing, Multiplex ligation-dependent probe amplification, EP300-RSTS-phenotype, lcsh:RC31-1245, Genetic Association Studies, business.industry, Infant, medicine.disease, Human genetics, RSTS, lcsh:Genetics, business, E1A-Associated p300 Protein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b417867b35fed71068b48a1eeac110eTest
http://link.springer.com/article/10.1186/s12881-018-0548-2Test

المؤلفون: López M, García-Oguiza A, Armstrong-Moron J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V, Domínguez-Garrido E

المصدر: BMC MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: EP300-mutations, EP300, EP300-Rubinstein-Taybi, RSTS, EP300-RSTS-phenotype, RSTS-2, Broad thumbs, Intellectual disability

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6ec02f2ae778f2042eb3518042fca52eTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13906Test