2024-05-03 05:45 |
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2024-05-02 14:40 |
5 p, 1.5 MB |
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis : New splicing events
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Segarra Casas, Alba (Universitat Autonoma de Barcelona. Departament de Genètica i Microbiologia) ;
Domínguez-González, C (Instituto de Salud Carlos III) ;
Hernández-Laín, Aurelia (Hospital Universitario 12 de Octubre) ;
Sanchez-Calvin, Maria Teresa (Hospital Universitario 12 de Octubre) ;
Camacho, Ana (Universidad Complutense de Madrid) ;
Rivas, Eloy (Pathology Universidad de Sevilla) ;
Campo-Barasoain, Andrea (Hospital Universitario Virgen Macarena) ;
Madruga, Marcos (Hospital Viamed Santa Ángela de la Cruz) ;
Ortez, Carlos (Institut de Recerca Sant Joan de Déu) ;
Natera-De Benito, Daniel (Institut de Recerca Sant Joan de Déu) ;
Nascimento, Andrés (Institut de Recerca Sant Joan de Déu) ;
Codina, Anna (Institut de Recerca Sant Joan de Déu) ;
Rodriguez, Maira Jose (Hospital de la Santa Creu i Sant Pau) ;
Gallano, Pia (Instituto de Salud Carlos III) ;
Gonzalez-Quereda, Lidia (Instituto de Salud Carlos III)
Background Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing. [...]
2023 - 10.1136/jmg-2022-108828
Journal of medical genetics, Vol. 60, Issue 6 (June 2023) , p. 615-619
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2024-05-02 05:05 |
12 p, 296.4 KB |
Incidence of Perinatal Post-Traumatic Stress Disorder in Catalonia : An Observational Study of Protective and Risk Factors
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Canet-Velez, Olga (Universitat Ramon Llull) ;
Besa, Meritxell Escalé (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Sanromà-Ortíz, Montserrat (Universitat de Lleida) ;
Espada-Trespalacios, Xavier (Universitat Ramon Llull) ;
Escuriet, Ramón (Universitat Ramon Llull) ;
Prats-Viedma, Blanca (Agència de Salut Pública de Catalunya) ;
Cobo, Jesus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ollé-Gonzalez, Júlia (Universitat Ramon Llull) ;
Vela, Emili (Institut d'Investigació Biomèdica de Bellvitge) ;
Casañas, Rocio (Universitat Ramon Llull) ;
Universitat Autònoma de Barcelona
Pregnancy and childbirth have a great impact on women's lives; traumatic perinatal experiences can adversely affect mental health. The present study analyzes the incidence of perinatal post-traumatic stress disorder (PTSD) in Catalonia in 2021 from data obtained from the Registry of Morbidity and Use of Health Resources of Catalonia (MUSSCAT). [...]
2024 - 10.3390/healthcare12080826
Healthcare, Vol. 12 (april 2024)
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2024-05-01 06:06 |
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2024-05-01 06:06 |
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2024-05-01 06:06 |
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2024-05-01 06:06 |
17 p, 1.6 MB |
Diet comparison between sympatric European bison, red deer and fallow deer in a Mediterranean landscape
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Bartolomé, Jordi (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Moran, Fernando (European Bison Conservation Center of Spain) ;
Kemp, Yvonne JM (European Bison Conservation Center of Spain) ;
Hajra, Munir (Czech University of Life Sciences Prague) ;
Gort Esteve, Araceli (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Cassinello Roldán, Jorge (Consejo Superior de Investigaciones Científicas. Estación Experimental de Zonas Áridas)
At the end of 2020, 18 European bison (Bison bonasus) were introduced to El Encinarejo estate, in the south of the Iberian Peninsula. This hunting-oriented estate has 956 hectares of dehesa, Mediterranean forest and scrubland in which about 400 red deer (Cervus elaphus) and 200 fallow deer (Dama dama) coexist with the bison. [...]
2024 - 10.1007/s10531-024-02832-x
Biodiversity and Conservation, Vol. 33 Núm. 5 (2024) , p. 1775-1791
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2024-05-01 06:06 |
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18 p, 604.5 KB |
Multispecies Alliances Against the Wasteocene : Counter-Narratives and Commoning Practices
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Armiero, Marco (Universitat Autònoma de Barcelona) ;
Pellow, David N. (University of California Santa Barbara)
En este artículo, no nos envolveremos con el Antropoceno científico, pero si estamos interesados en desafiar lo que Jason Moore llamó de Antropoceno popular, es decir, una narrativa sobre la actual crisis socioecológica y sus causas. [...] In this article, we will not engage with the scientific Anthropocene, rather, we are interested in challenging what Jason Moore has called the popular Anthropocene, that is, a narrative about the present socio-ecological crisis and its causes. [...]
Universidade Federal do Rio de Janeiro. Instituto de História, 2023 - 10.1590/2237-101X02405403
Topoi. Revista de História, Vol. 24 Núm. 54 (2023) , p. 685-702
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