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1دورية أكاديمية
المؤلفون: Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
مصطلحات موضوعية: CREBBP, epigenetics, genotype–phenotype correlation, Rubinstein‐Taybi syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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المؤلفون: Verónica Seidel, Fernando Santos-Simarro, Judith Armstrong, Maria Antonia Ramos‐Arroyo, María López, Mercé Pineda Marfa, Mar O'Callaghan, Virginia Pérez-Grijalba, Jose María Mesa‐Latorre, García-Oguiza A, Elena Domínguez-Garrido, Sixto García-Miñaur
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, lcsh:QH426-470, 030105 genetics & heredity, Biology, DNA sequencing, Frameshift mutation, Young Adult, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Missense mutation, Child, EP300, Molecular Biology, Gene, Genetic Association Studies, Genetics (clinical), Rubinstein-Taybi Syndrome, epigenetics, Rubinstein–Taybi syndrome, Point mutation, Infant, Original Articles, genotype–phenotype correlation, CREBBP, medicine.disease, CREB-Binding Protein, Rubinstein‐Taybi syndrome, lcsh:Genetics, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Female, Original Article, E1A-Associated p300 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f219aa443af5c2668e04a0d2896aa9cTest
https://doi.org/10.1002/mgg3.972Test -
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المؤلفون: M. Susana Medina-Montalvo, Alicia Cabrera-Hernández, Jose María Mesa-Latorre, M. Dolores Vélez-Velázquez, Isabel Polo-Rodríguez, María Mercedes García-Rodríguez
المصدر: Piel. 28:574-576
مصطلحات موضوعية: business.industry, Medicine, Dermatology, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::db9daaa9036c2cab7bcc629a45986deaTest
https://doi.org/10.1016/j.piel.2013.04.003Test -
4دورية أكاديمية
المؤلفون: Gerardo Rojo-marcos, Juan Cuadros-gonzález, José María Mesa-latorre, Ana María Culebras-lópez
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf