المؤلفون: Maria López, Virginia Pérez‐Grijalba, Inmaculada García‐Cobaleda, Elena Domínguez‐Garrido

المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 3183-3187 (2020)

مصطلحات موضوعية: Cabezas syndrome, CUL4B, intellectual disability, XLID, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/2283bc87679243fea2b2d178811261bcTest

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: Elena Domínguez-Garrido, Inmaculada García-Cobaleda, María López, Virginia Pérez-Grijalba

المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 3183-3187 (2020)
Clinical Case Reports

مصطلحات موضوعية: Genetics, Medicine (General), genetic structures, XLID, business.industry, Case Report, Cabezas syndrome, Case Reports, General Medicine, medicine.disease, eye diseases, R5-920, intellectual disability, Intellectual disability, Medicine, CUL4B, sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ec4fcd36a54a2d38e418f8eafb769eTest
https://doi.org/10.1002/ccr3.3381Test

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: María Concepción, Alonso-Cerezo, Mercedes, Calero Ruiz, Venancio, Chantada-Abal, Luis Alfonso, de la Fuente-Hernández, Inmaculada, García-Cobaleda, Carlos, García-Ochoa, José Miguel, García-Sagredo, Rocío, Nuñez, Rafael, Oliva, María, Orera-Clemente, David, Pintado-Vera, Silvia, Sanchez-Ramon

المصدر: Medicina Clínica (English Edition). 151:161.e1-161.e12

مصطلحات موضوعية: Chromosome Aberrations, Male, 0301 basic medicine, 030219 obstetrics & reproductive medicine, Reproduction, Genetic Diseases, Inborn, Donor Conception, Epigenesis, Genetic, 03 medical and health sciences, Sex Factors, 030104 developmental biology, 0302 clinical medicine, Humans, Female, Genetic Testing, Infertility, Female, Infertility, Male

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eeb1f5023096348cf9aebcb3895f860Test
https://doi.org/10.1016/j.medcle.2018.02.017Test

المؤلفون: Rocío Nuñez, David Pintado-Vera, Mercedes Calero Ruiz, Inmaculada García-Cobaleda, María Concepción Alonso-Cerezo, Carlos García-Ochoa, José Miguel García-Sagredo, Luis Alfonso de la Fuente-Hernández, María Orera-Clemente, Silvia Sánchez-Ramón, Rafael Oliva, Venancio Chantada-Abal

المصدر: Medicina Clínica. 151:161.e1-161.e12

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, business.industry, Biochemistry (medical), Clinical Biochemistry, Diagnostic test, General Medicine, Test (assessment), 03 medical and health sciences, Laboratory test, 030104 developmental biology, 0302 clinical medicine, Medicine, Limited evidence, business, Intensive care medicine, Set (psychology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a06213a1293f857c6fe2823b960856e4Test
https://doi.org/10.1016/j.medcli.2018.02.008Test