Výsledky vyhledávání - "Salomé de Almeida"

Akademický článek

Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

Autor: Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A. Belo

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)

Abstract Background Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CH

Externí odkaz: https://doaj.org/article/184c971cca324b0da5b386ef90549b05

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Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects

Autor: Salomé de Almeida, Patrícia Mendes, José M. Inácio, Rui Anjos, José António Belo, Duarte Martins, José Maio, Fernando Cristo

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
BMC Medical Genetics
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Background Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e471fc5be288e33884a87e815a4001a
http://link.springer.com/article/10.1186/s12881-017-0444-1

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Estudo longitudinal do efeito mediador da auto-culpabilização na relação entre ansiedade e sintomatologia depressiva numa amostra de adolescentes portugueses

Autor: Antunes, Salomé de Almeida Patita e Café

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Dissertação de Mestrado Integrado em Psicologia apresentada à Faculdade de Psicologia e de Ciências da Educação A depressão na adolescência é um grave problema de saúde que tem sido, cada vez mais, alvo de preocupação, podendo estar assoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d6dfff20ef95f592a4e6ad9007c1649f

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Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal

Autor: Peter H. Byers, Salomé de Almeida, Teresa Kay, Frank J. Kaiser, Sabina Gallati, Paola Brega, Bernhard Horsthemke, Michael L. Raff, Hermann-Josef Lüdecke

Publikováno v: European journal of human genetics : EJHG. 12(2)

Deletion or mutation of the TRPS1 gene leads to the tricho-rhino-phalangeal syndromes (TRPS). The gene encodes a zinc-finger transcription factor, which contains two regions with basic amino acids LRRRRG (NLS1) and RRRTRKR (NLS2) that resemble potent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ca05c1ee6cb0baa2c836756108e538
https://pubmed.ncbi.nlm.nih.gov/14560312

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Akademický článek

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Autor: Ying Hu, I-Ping Chen, Salome de Almeida, Valdenize Tiziani, Cassio M Raposo Do Amaral, Kalpana Gowrishankar, Maria Rita Passos-Bueno, Ernst J Reichenberger

Publikováno v: PLoS ONE, Vol 8, Iss 8, p e73576 (2013)

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter A

Externí odkaz: https://doaj.org/article/4f27aa04aef4405fbc54b78b9d91d498

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