Percorrer por assunto Phenotype

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DataTítuloAutor(es)TipoAcesso
2008Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardationSantos, Mónica; Yan, Jin; Temudo, Teresa, et al.ArtigoAcesso restrito UMinho
9-Mai-2006APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answersBurwick, R. M.; Ramsay, P. P.; Haines, J. L., et al.ArtigoAcesso restrito UMinho
Nov-2013Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsSanten, Gijs W. E.; Aten, Emmelien; Vulto-van Silfhout, Anneke T., et al.ArtigoAcesso restrito UMinho
Dez-2009Computational approaches for the genetic and phenotypic characterization of a Saccharomyces cerevisiae wine yeast collectionDuarte, Ricardo Franco; Umek, Lan; Zupan, Blaz, et al.ArtigoAcesso aberto
Set-2008Cystic adenomatoid malformations are induced by localized FGF10 overexpression in fetal rat lungGonzaga, Sílvia; Henriques-Coelho, Tiago; Davey, Marcus, et al.ArtigoAcesso aberto
2005Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotypeVoer, G. de; Bent, P. van der; Rodrigues, Ana João, et al.ArtigoAcesso restrito UMinho
19-Dez-2009Developmental disturbances associated with agenesis of the permanent maxillary lateral incisorPinho, T.; Maciel, P.; Pollmann, C.ArtigoAcesso aberto
11-Jul-2016Does the Interplay Between Aging and Neuroinflammation Modulate Alzheimer's Disease Clinical Phenotypes? A Clinico-Pathological Perspective.Taipa, Ricardo Jorge Ferreira; Sousa, Ana Luísa; Pires, Manuel Melo, et al.ArtigoAcesso aberto
Out-2017European cowpea landraces for a more sustainable agriculture system and novel foodsLino-Neto, T.ArtigoAcesso restrito autor
Ago-2006Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotypeCosta, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco, et al.ArtigoAcesso aberto
2007Expression of p120-catenin isoforms correlates with genomic and transcriptional phenotype of breast cancer cell linesParedes, Joana; Correia, Ana Luísa; Ribeiro, Ana Sofia, et al.ArtigoAcesso restrito UMinho
2019Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3Hosie, Suzanne; Ellis, Melina; Swaminathan, Mathusi, et al.ArtigoAcesso aberto
Out-2008The genetic and phenotypic characterization of a saccharomyces cerevisiae wine yeast collection using bioinformatic approachesDuarte, Ricardo Franco; Umek, Lan; Zupan, Blaz, et al.Poster em conferênciaAcesso aberto
2013Identification of metabolic pathways influenced by the G-protein coupled receptors GprB and GprD in Aspergillus nidulansde Souza, Wagner R; Morais, Enyara Rezende; Krohn, Nadia Graciele, et al.ArtigoAcesso aberto
2018Large-scale genomic analysis shows association between homoplastic genetic variation in Mycobacterium tuberculosis genes and meningeal or pulmonary tuberculosisRuesen, Carolien; Chaidir, Lidya; van Laarhoven, Arjan, et al.ArtigoAcesso aberto
2017Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry DiseaseAzevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel, et al.ArtigoAcesso restrito autor
Jan-2009Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patientsSantos, Mónica; Temudo, Teresa; Kay, Teresa, et al.ArtigoAcesso aberto
2016A network approach to discerning the identities of C. elegans in a free moving populationWinter, Peter B.; Brielmann, Renee M.; Timkovich, Nicholas P., et al.ArtigoAcesso aberto
Jul-2012A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problemsAntunes, Henedina; Gonçalves, Jean Pierre; Silva, Esmeralda, et al.ArtigoAcesso aberto
2010P-cadherin, vimentin and CK14 for identification of basal-like phenotype in breast carcinomas: an immunohistochemical studySousa, Bárbara; Paredes, Joana; Milanezi, Fernanda, et al.ArtigoAcesso restrito autor
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