Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Núria Capdevila"'
Autor:
Cinthia Aguilera, Elisabeth Gabau, Ariadna Ramirez-Mallafré, Carme Brun-Gasca, Jana Dominguez-Carral, Veronica Delgadillo, Steve Laurie, Sophia Derdak, Natàlia Padilla, Xavier de la Cruz, Núria Capdevila, Nino Spataro, Neus Baena, Miriam Guitart, Anna Ruiz
Publikováno v:
PLoS ONE, Vol 16, Iss 10 (2021)
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 1
Externí odkaz:
https://doaj.org/article/58f010521b1a422bb267dbbed268f859
Autor:
Núria Capdevila-Argüelles
Publikováno v:
Lectora: Revista de Dones i Textualitat, Iss 11 (2005)
This article pairs an author and the character to which she devoted most of her literary life. Additionally, the title directly refers to the theme that joins Fortún’s subjectivity with Celia Gálvez’s, the existence of a writer’s self in them
Externí odkaz:
https://doaj.org/article/cddcdf8e18ea4e839499f8273526f75f
Autor:
Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background Temple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to an increase in the maternal expressed genes and a silencing the paternally expressed genes
Externí odkaz:
https://doaj.org/article/af22d34ee914432088d10b491ca50764
Autor:
Núria Capdevila, Miriam Guitart, Ariadna Ramirez-Mallafré, Xavier de la Cruz, Veronica Delgadillo, Neus Baena, Anna Ruiz, Carme Brun-Gasca, Nino Spataro, Elisabeth Gabau, Natalia Padilla, Steve Laurie, Jana Dominguez-Carral, Cinthia Aguilera, Sophia Derdak
Publikováno v:
Scientia
PLoS ONE, Vol 16, Iss 10 (2021)
PLoS ONE
PLoS ONE, Vol 16, Iss 10, p e0258766 (2021)
PLoS ONE, Vol 16, Iss 10 (2021)
PLoS ONE
PLoS ONE, Vol 16, Iss 10, p e0258766 (2021)
Síndrome de Angelman; Fenotipo Síndrome d'Angelman; Fenotip Angelman syndrome; Phenotype Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd69672710c211fe45f6d1baef45bbdc
https://hdl.handle.net/11351/7292
https://hdl.handle.net/11351/7292
Autor:
Raquel Corripio, Núria Capdevila, Carme Brun, Elisabeth Gabau, Carla Tubau, Laura Calvo, Helena Larramona
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:879-884
Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age wi
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
Autor:
Carmen Manso-Bazús, Nino Spataro, Elisabeth Gabau, Viviana P. Beltrán-Salazar, Juan Pablo Trujillo-Quintero, Nuria Capdevila, Anna Brunet-Vega, Neus Baena, A Arockia Jeyaprakash, Victor Martinez-Glez, Anna Ruiz
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic fact
Externí odkaz:
https://doaj.org/article/ee8d5c9d7ce1457f9888d02ded0bbba8
Autor:
Nino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso, Elisabeth Gabau, Nuria Capdevila, Victor Martinez-Glez, Antoni Berenguer-Llergo, Sara Reyes, Anna Brunet, Neus Baena, Miriam Guitart, Anna Ruiz
Publikováno v:
Genes, Vol 14, Iss 3, p 708 (2023)
Neurodevelopmental disorders (NDDs) affect 2–5% of the population and approximately 50% of cases are due to genetic factors. Since de novo pathogenic variants account for the majority of cases, a gene panel including 460 dominant and X-linked genes
Externí odkaz:
https://doaj.org/article/b4d48d25439c4d14869a46d2b01c1495
Autor:
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-7 (2017)
Abstract Background Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack o
Externí odkaz:
https://doaj.org/article/78683611a3034c6699fa4b8a10379abe
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