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Percorrer por assunto Phenotype
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Data
Título
Autor(es)
Tipo
Acesso
2008
Analysis 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 retardation
Santos, Mónica
;
Yan, Jin
;
Temudo, Teresa
, et al.
Artigo
Acesso restrito UMinho
9-Mai-2006
APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers
Burwick, R. M.
;
Ramsay, P. P.
;
Haines, J. L.
, et al.
Artigo
Acesso restrito UMinho
Nov-2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients
Santen, Gijs W. E.
;
Aten, Emmelien
;
Vulto-van Silfhout, Anneke T.
, et al.
Artigo
Acesso restrito UMinho
Dez-2009
Computational approaches for the genetic and phenotypic characterization of a Saccharomyces cerevisiae wine yeast collection
Duarte, Ricardo Franco
;
Umek, Lan
;
Zupan, Blaz
, et al.
Artigo
Acesso aberto
Set-2008
Cystic adenomatoid malformations are induced by localized FGF10 overexpression in fetal rat lung
Gonzaga, Sílvia
;
Henriques-Coelho, Tiago
;
Davey, Marcus
, et al.
Artigo
Acesso aberto
2005
Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype
Voer, G. de
;
Bent, P. van der
;
Rodrigues, Ana João
, et al.
Artigo
Acesso restrito UMinho
19-Dez-2009
Developmental disturbances associated with agenesis of the permanent maxillary lateral incisor
Pinho, T.
;
Maciel, P.
;
Pollmann, C.
Artigo
Acesso aberto
11-Jul-2016
Does 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.
Artigo
Acesso aberto
Out-2017
European cowpea landraces for a more sustainable agriculture system and novel foods
Lino-Neto, T.
Artigo
Acesso restrito autor
Ago-2006
Exclusion 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 phenotype
Costa, Maria do Carmo
;
Teixeira-Castro, Andreia
;
Constante, Marco
, et al.
Artigo
Acesso aberto
2007
Expression of p120-catenin isoforms correlates with genomic and transcriptional phenotype of breast cancer cell lines
Paredes, Joana
;
Correia, Ana Luísa
;
Ribeiro, Ana Sofia
, et al.
Artigo
Acesso restrito UMinho
2019
Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3
Hosie, Suzanne
;
Ellis, Melina
;
Swaminathan, Mathusi
, et al.
Artigo
Acesso aberto
Out-2008
The genetic and phenotypic characterization of a saccharomyces cerevisiae wine yeast collection using bioinformatic approaches
Duarte, Ricardo Franco
;
Umek, Lan
;
Zupan, Blaz
, et al.
Poster em conferência
Acesso aberto
2013
Identification of metabolic pathways influenced by the G-protein coupled receptors GprB and GprD in Aspergillus nidulans
de Souza, Wagner R
;
Morais, Enyara Rezende
;
Krohn, Nadia Graciele
, et al.
Artigo
Acesso aberto
2018
Large-scale genomic analysis shows association between homoplastic genetic variation in Mycobacterium tuberculosis genes and meningeal or pulmonary tuberculosis
Ruesen, Carolien
;
Chaidir, Lidya
;
van Laarhoven, Arjan
, et al.
Artigo
Acesso aberto
2017
Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease
Azevedo, Olga
;
Gago, Miguel
;
Miltenberger-Miltenyi, Gabriel
, et al.
Artigo
Acesso restrito autor
Jan-2009
Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients
Santos, Mónica
;
Temudo, Teresa
;
Kay, Teresa
, et al.
Artigo
Acesso aberto
2016
A network approach to discerning the identities of C. elegans in a free moving population
Winter, Peter B.
;
Brielmann, Renee M.
;
Timkovich, Nicholas P.
, et al.
Artigo
Acesso aberto
Jul-2012
A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems
Antunes, Henedina
;
Gonçalves, Jean Pierre
;
Silva, Esmeralda
, et al.
Artigo
Acesso aberto
2010
P-cadherin, vimentin and CK14 for identification of basal-like phenotype in breast carcinomas: an immunohistochemical study
Sousa, Bárbara
;
Paredes, Joana
;
Milanezi, Fernanda
, et al.
Artigo
Acesso restrito autor