Search Results - "Galán, Enrique"
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Who benefits from the procurement financed by Multilateral Development Banks?
Published in Journal of international development (01-01-2024)“…We use a gravity model to inquire about the factors that influence the amount of public procurement awarded by developing countries with funding from…”
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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
Published in Human genetics (01-02-2009)“…Spinal muscular atrophy (SMA) is caused by mutations in the SMN1 gene. We have studied the molecular pathology of SMA in 745 unrelated Spanish patients using…”
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Biofilm on total joint replacement materials can be reduced through electromagnetic induction heating using a portable device
Published in Journal of orthopaedic surgery and research (20-05-2024)“…Periprosthetic joint infection is a serious complication following joint replacement. The development of bacterial biofilms bestows antibiotic resistance and…”
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Arquitectura, vanguardia y distopía: la inversión de los proyectos utópicos en la ficción especulativa y su rol en la pantalla
Published in El futuro del pasado (2023)“…El presente escrito tiene como objetivo aproximarse a la inversión sufrida por la arquitectura de vanguardia a ojos del cine y al papel que juegan dichas…”
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Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example
Published in Genetics in medicine (01-11-2017)Get full text
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Evaluation of different methods for efficient extraction of hemicelluloses leaves and tops of sugarcane
Published in Dyna (Medellín, Colombia) (01-01-2018)“…There are around 9 million tons of sugarcane crop residue per year in Colombia that are not recovered but they have potential to make value-added products. It…”
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The modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome
Published in Gene (10-03-2013)“…Individuals who are carriers of deletions of various sizes that cause haploinsufficiency in the contiguous WT1 and PAX6 genes, located on chromosome 11p13…”
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Global value chains and inward foreign direct investment in the 2000s
Published in World economy (01-01-2019)“…In this paper, we make use of recent data published by the World Input‐Output Database to: (i) provide evidence on trade in value added of the major…”
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Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
Published in BMC medical genetics (11-04-2008)“…Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth…”
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Una historia de amor estético: Adelardo Covarsí y la elaboración y realización de la memoria y presupuestos del decorado que se proyecta en el salón de sesiones y en el despacho presidencial del palacio municipal de Alburquerque (Badajoz)
Published in Norba. Arte (11-01-2024)“…Although Adelardo Covarsí’s painting have been profusely studied and much appreciated, the ornamental Project we are focusing on for Alburquerque (Badajoz) has…”
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Desarrollo sostenible y oportunidad de aprendizaje de las biorrefinerías: Una alternativa de la biomasa
Published in Revista de ciencias sociales (Maracaibo, Venezuela) (01-01-2020)“…En este siglo, los derivados del petróleo son cada vez más escasos y el perjuicio ambiental hace cuestionable su uso, la comunidad científica afronta desafíos…”
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Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation
Published in Journal of medical genetics (01-04-2007)“…Background: Broken chromosomes must acquire new telomeric “caps” to be structurally stable. Chromosome healing can be mediated either by telomerase through…”
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Early Mitochondrial Dysfunction in an Infant With Alexander Disease
Published in Pediatric neurology (01-10-2006)“…Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile…”
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Distinct mechanism of formation of the 48, XXYY karyotype
Published in Molecular cytogenetics (03-07-2013)“…To expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based on the…”
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Microalgae: bibliometric relationship of biorefineries, circular economy and the environment
Published in Biotecnologia en el sector agropecuario y agroindustrial (06-04-2022)“…Microalgae have various advantages over vegetable crops, such as their growth speed, the greater consumption of CO2 and production of O2, and the vast variety…”
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The Belt and Road Initiative: The Cornerstone of the New-Fangled Financial Institutionalism Led by China
Published in Baltic journal of European studies (01-09-2019)“…The debate about the benefits and the risks brought both to People’s Republic of China and to the other participant countries by the Belt and Road Initiative…”
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Trade in the enlarged European Union: a new approach on trade potential
Published in Portuguese economic journal (01-12-2008)“…This paper focuses on the trade potential of manufactured exports from countries belonging to the enlarged EU (EU25) to groups of countries of that economic…”
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Who benefits from the procurement financed by Multilateral Development Banks?
Published in Journal of international development (2023)“…We use a gravity model to inquire about the factors that influence the amount of public procurement awarded by developing countries with funding from…”
Get full text
Journal Article -
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The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability
Published in Journal of human genetics (01-03-2019)“…Syndromic monogenic obesity is a rare and severe early-onset form of obesity. It is characterized by intellectual disability, congenital malformations, and/or…”
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