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: Masoud Gharib, Mozhgan Farahbod

المصدر: Journal of Rehabilitation, Vol 13, Iss 4, Pp 147-150 (2013)

مصطلحات موضوعية: Rubinstein Taybi syndrome, Developmental evaluation, Broad thumbs and toes, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: http://rehabilitationj.uswr.ac.ir/browse.php?a_code=A-10-426-7&slc_lang=en&sid=1Test; https://doaj.org/toc/1607-2960Test

الوصول الحر: https://doaj.org/article/5d4cd5ac25a04e998452638addc0126eTest

المؤلفون: P Shilpashree, Ashok Kumar Jaiswal, Priyadarshini M Kharge

المصدر: Indian Journal of Dermatology, Vol 60, Iss 2, Pp 214-214 (2015)

مصطلحات موضوعية: Rubinstein-Taybi syndrome, multiple spontaneous keloids, broad thumbs and halluces, Dermatology, RL1-803

العلاقة: http://www.e-ijd.org/article.asp?issn=0019-5154;year=2015;volume=60;issue=2;spage=214;epage=214;aulast=ShilpashreeTest; https://doaj.org/toc/0019-5154Test; https://doaj.org/toc/1998-3611Test; https://doaj.org/article/398f04b18a114ff2996ce9cb1e2c2225Test

الإتاحة: https://doi.org/10.4103/0019-5154.152594Test
https://doaj.org/article/398f04b18a114ff2996ce9cb1e2c2225Test

المؤلفون: Márta Czakó, Ágnes Till, Zsuzsanna Gyorsok, Oliver Bartsch, Kinga Hadzsiev

المصدر: Clinical Dysmorphology

مصطلحات موضوعية: Male, speech delay, Heterozygote, Cerebellum, Genotype, cerebellar abnormality, Scoliosis, Gene mutation, Pathology and Forensic Medicine, medicine, tethered cord, Humans, microcephaly, Genetic Testing, Neural Tube Defects, Frameshift Mutation, EP300, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Rubinstein-Taybi Syndrome, autistic behavior, Rubinstein–Taybi syndrome, Neural tube defect, Genome, Human, business.industry, Neural tube, High-Throughput Nucleotide Sequencing, stereotypic movements, vesicoureteral reflux, Original Articles, lumbosacral myelocele, Exons, General Medicine, Anatomy, medicine.disease, Spinal cord, CREB-Binding Protein, medicine.anatomical_structure, syringohydromyelia, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, broad thumbs and halluces, business, E1A-Associated p300 Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94789bef501bb68fdee00f21a365ecaTest
https://doi.org/10.1097/mcd.0000000000000262Test

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

المؤلفون: Nermine S. Elsayed, Rabah M. Shawky, Neveen S. Seifeldin

المصدر: Egyptian Journal of Medical Human Genetics. 13(2):233-237

مصطلحات موضوعية: Rubinstein-Taybi Syndrome, Microcephaly, Rubinstein–Taybi syndrome, business.industry, Kyphosis, Megalocornea, Anatomy, medicine.disease, Broad halluces, Short stature, body regions, Dysplastic nails, Short 5th toe, medicine, Broad thumbs, Genetics(clinical), medicine.symptom, Hypertelorism, business, Congenital glaucoma, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c60e0e3850ffd030675914c851ce840eTest

المؤلفون: Suresh Kumar, Inusha Panigrahi, Renu Suthar, Ram Kumar Marwaha

المصدر: Indian Journal of Human Genetics

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, Intelligence quotient, Rubinstein–Taybi syndrome, business.industry, Genetic counseling, Pachygyria, dysmorphism, Retrospective cohort study, medicine.disease, Microphthalmia, mental retardation, Neurodevelopmental disorder, broad thumbs, Genetics, medicine, Original Article, business, Beaked nose, Genetics (clinical), broad toes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c031bdf55fe61c972c027998b20954cdTest
http://europepmc.org/articles/PMC3491287Test

المؤلفون: HERRERA V, JAIME

المصدر: Revista chilena de pediatría, Volume: 45, Issue: 1, Pages: 67-87, Published: FEB 1974

مصطلحات موضوعية: robinow s syndrome, broad thumbs, rubinstein, síndrome de robinow, pulgares anchos, brachydactyly, braquidactilia

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______614::fef1b46eb4261842265c0a78bf766b31Test
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41061974000100011&lng=en&tlng=enTest