نتائج البحث - "Ángela Ascaso"

المساهمون: Institut Català de la Salut, [Trujillano L] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology-Legal Medicine, School of Medicine, Universidad de Zaragoza, CIBERERGCV02 and IIS-Aragon, Zaragoza, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Department of Pediatrics, Hospital Clínico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. [Ayerza-Casas A] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology-Legal Medicine, School of Medicine, Universidad de Zaragoza, CIBERERGCV02 and IIS-Aragon, Zaragoza, Spain. Department of Pediatrics, Hospital Universitario Miguel Servet, Zaragoza, Spain. [Puisac B, Ascaso Á, Latorre-Pellicer A] Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology-Legal Medicine, School of Medicine, Universidad de Zaragoza, CIBERERGCV02 and IIS-Aragon, Zaragoza, Spain. [González García G] Department of Pediatrics, Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Heart Defects, Congenital, diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico por imagen::técnicas de imagen cardíaca::ecocardiografía [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Adolescent, Miocardi - Malalties - Diagnòstic, Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Imaging::Cardiac Imaging Techniques::Echocardiography [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Otros calificadores::/diagnóstico [Otros calificadores], Medizin, Stroke Volume, Cell Cycle Proteins, enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual::síndrome de De Lange [ENFERMEDADES], Histone Deacetylases, Repressor Proteins, Cardiovascular Diseases::Heart Diseases::Cardiomyopathies [DISEASES], Predictive Value of Tests, Echocardiography, De Lange Syndrome, enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías [ENFERMEDADES], Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability::De Lange Syndrome [DISEASES], Other subheadings::/diagnosis [Other subheadings], Humans, Discapacitat intel·lectual, Child, Cardiomyopathies, Ecocardiografia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c86bc787f703b8d569b7a3bce290c98Test

10

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

المساهمون: Latorre-Pellicer A., Gil-Salvador M., Parenti I., Lucia-Campos C., Trujillano L., Marcos-Alcalde I., Arnedo M., Ascaso A., Ayerza-Casas A., Antonanzas-Perez R., Gervasini C., Piccione M., Mariani M., Weber A., Kanber D., Kuechler A., Munteanu M., Khuller K., Bueno-Lozano G., Puisac B., Gomez-Puertas P., Selicorni A., Kaiser F.J., Ramos F.J., Pie J., Ministerio de Sanidad (España), Diputación General de Aragón

المصدر: DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Scientific Reports
Digital.CSIC. Repositorio Institucional del CSIC
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Adult, Male, Cornelia de Lange Syndrome, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Comparative Genomic Hybridization, De Lange Syndrome, Female, Gene Deletion, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mosaicism, Mutation, Missense, Phenotype, Retrospective Studies, Spain, Young Adult, Adolescent, Somatic cell, Science, Genetic counseling, Medizin, Mutation, Missense, Diseases, Cell Cycle Proteins, Biology, Paediatric research, Germline, Article, 03 medical and health sciences, Negative selection, Young Adult, Medical research, De Lange Syndrome, Genetics research, medicine, Missense mutation, Humans, Clinical significance, Child, 030304 developmental biology, Retrospective Studies, Genetics, 0303 health sciences, Comparative Genomic Hybridization, Multidisciplinary, Mosaicism, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, NIPBL, Middle Aged, medicine.disease, Phenotype, Settore MED/03 - Genetica Medica, Spain, Child, Preschool, Medicine, Female, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f4e63f9800a7e33803fdefc6024789Test
https://hdl.handle.net/10641/2784Test

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