Author profile: González-Meneses López, Antonio
Institutional data
Name | González-Meneses López, Antonio |
Department | Farmacología, Pediatría y Radiología |
Knowledge area | Pediatría |
Professional category | Profesor Asociado CIS |
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Statistics
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No. publications
3
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No. visits
870
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No. downloads
6530
Publications |
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Article
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
(BMC, 2021)
Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited ... |
PhD Thesis
Utilidad del cariotipo molecular (array CGH) para el diagnóstico etiológico en los niños afectos de discapacidad intelectual
(2016)
Introducción. El retraso mental en la infancia es un problema que afecta aproximadamente a un 3% de la población, estimándose ... |
Article
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
(Hindawi, 2014)
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized ... |