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المؤلفون: V.E.F. Montaño, Susana Noval, B. Jimenez-Rolando, Rubén Martín-Arenas, Carlos Ibáñez, Elena Vallespín, J.C. Silla, A. del Pozo, I. Rosa-Perez, E. Mata Diaz
المصدر: Archivos de la Sociedad Española de Oftalmología (English Edition). 93:119-125
مصطلحات موضوعية: 0301 basic medicine, Genetics, genetic structures, biology, business.industry, ABCA4, General Medicine, Disease, Macular dystrophy, Bioinformatics, eye diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), 030221 ophthalmology & optometry, biology.protein, Eye disorder, Medicine, Allelic heterogeneity, business, Gene, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::02be75e675fff4d66365dbdec17804ceTest
https://doi.org/10.1016/j.oftale.2017.06.004Test -
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المؤلفون: Patricia Cruz, Pilar Santisteban, Darío Sanchez-Cabrero, María Palomares-Bralo, Veronica Pulido, Rocío Rosas, Alvaro García-Guede, Javier de Castro, Carmen Rodriguez, MDolores Diestro, Inmaculada Ibáñez de Cáceres, Carlos Rodriguez-Antolin, Olga Vera, Rubén Martín-Arenas, Olga Pernía, Ana Sastre-Perona
مصطلحات موضوعية: Cisplatin, molecular_biology, Tumor suppressor gene, In silico, Cell, Wnt signaling pathway, Transfection, Biology, Malignancy, medicine.disease, medicine.disease_cause, medicine.anatomical_structure, medicine, Cancer research, Carcinogenesis, medicine.drug
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71390574d6d5e4826928db3c9da80f8dTest
https://doi.org/10.1101/517169Test -
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المؤلفون: Maria V. Gomez, Kristina Ibáñez, Fernando Santos-Simarro, Hector Gonzalez-Pecellin, Lara Rodriguez-Laguna, Ana Bustamante, Juan Carlos López-Gutiérrez, Cristina Villaverde, Elena Vallespín, Gema Gordo, Noelia Agra, Angela del Pozo, Pablo Lapunzina, Victor L. Ruiz-Perez, Julián Nevado, Victoria E. Fernandez-Montano, Sixto García-Miñaur, Carmen Ayuso, Rubén Martín-Arenas, Rocío Mena, Victor Martinez-Glez, Inmaculada Rueda-Arenas
المساهمون: Asociación Ultrafondo Solidario, Villarreal FC, Corporación de Radio y Televisión Española, Fundación Isabel Gemio, Instituto de Salud Carlos III, Federación Española de Enfermedades Neuromusculares, Federación Española de Enfermedades Raras, Fundación Conchita Rábago de Jiménez Díaz, Universidad Autónoma de Madrid
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Capillary malformation, Class I Phosphatidylinositol 3-Kinases, Somatic cell, 030105 genetics & heredity, Biology, Deep sequencing, CLAPO, Overgrowth, Arteriovenous Malformations, 03 medical and health sciences, Phosphatidylinositol 3-Kinases, medicine, Humans, Child, Lymphatic Diseases, Genetics (clinical), Genetic Association Studies, Retrospective Studies, Genetics, business.industry, Vascular malformation, High-Throughput Nucleotide Sequencing, PIK3CA, medicine.disease, Phenotype, Somatic mosaicism, Natural history, 030104 developmental biology, Lymphatic system, Mutation, Cohort, Vascular Disorder, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650b41c7c89879fd045c7aa85fa20ea0Test
https://doi.org/10.1101/154591Test -
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المؤلفون: Maria Orera, María Ángeles Mori, Elena Vallespín, Chad R. Haldeman-Englert, Alberto Fernández-Jaén, Xia Li, Alberto Plaja, Lani Devaney, María Palomares-Bralo, Alicia Delicado, Rubén Martín-Arenas, Salmo Raskin, Stephanie E. Vallee, Esther Corbacho-Fernández, Rocío Mena, Miguel Del Campo, Jay W. Ellison, Holly Dubbs, Jill A. Rosenfeld, Fernando Santos-Simarro, Sixto García-Miñaur, Sulagna C. Saitta, Lluís Armengol, M. Carmen Crespo, Carlos A. Venegas-Vega, Inmaculada Rueda-Arenas, Jair Tenorio, Victoria E. Fernandez-Montano, Fernando Fernández-Ramírez, Karen W. Gripp, Blanca Marín Fernández, María Luisa de Torres, Pablo Lapunzina, Gordon C. Gowans, Elizabeth Denenberg, Julián Nevado, M Carmen Sanchez-Hombre, Mary Beth Dinulos, Duban B Bénédicte
المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: Male, Microcephaly, Candidate gene, Developmental Disabilities, MAP Kinase Kinase 2, MAP2K2, Biology, Bioinformatics, Article, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Megalencephaly, Child, Poly-ADP-Ribose Binding Proteins, Genetics (clinical), Macrocephaly, Infant, Syndrome, medicine.disease, Protein Inhibitors of Activated STAT, Hypotonia, DNA-Binding Proteins, Child, Preschool, Speech delay, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 19, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda0a94c6bcf36efa06bb9657b508d7Test
https://pubmed.ncbi.nlm.nih.gov/25853300Test