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Data | Título | Autor(es) | Tipo | Acesso |
Ago-2007 | An explanation for another familial case of Rett syndrome: maternal germline mosaicism | Venâncio, Margarida; Santos, Mónica; Pereira, Susana Aires, et al. | Artigo | Acesso aberto |
Out-2009 | Analysis of microsatellite instability in medulloblastoma | Pereira, Marta Sofia Carvalho Ribeiro Viana; Almeida, Inês; Sousa, Sónia, et al. | Artigo | Acesso aberto |
2019 | Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy | Feichtinger, René G.; Mucha, Bettina E.; Hengel, Holger, et al. | Artigo | Acesso restrito autor |
Jul-2010 | A distinct spectrum of copy number aberrations in pediatric high-grade gliomas | Bax, Dorine A.; Mackay, Alan; Little, Suzanne E., et al. | Artigo | Acesso aberto |
Ago-2019 | Effects and acceptability of implementing improved cookstoves and heaters to reduce household air pollution: a FRESH AIR study | van Gemert, Frederik; de Jong, Corina; Kirenga, Bruce, et al. | Artigo | Acesso aberto |
Jan-2009 | Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment | Temudo, T.; Rios, M.; Prior, C., et al. | Artigo | Acesso aberto |
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 |
Mai-2009 | G2P[4] the most prevalent rotavirus genotype in 2007 winter season in an European non-vaccinated population | Antunes, Henedina; Afonso, Ariana; Iturriza, Miren, et al. | Artigo | Acesso aberto |
2018 | How different are parents and educators? A comparative study of interactive differences between parents and educators in a collaborative adult-child activity | Fuertes, Marina; Sousa, Otília; Łockiewicz, Marta, et al. | Artigo | Acesso aberto |
Nov-2019 | Identification of genomic loci associated with genotypic and phenotypic variation among Pseudomonas aeruginosa clinical isolates from pneumonia | Mesquita, Cristina S; Soares-Castro, Pedro; Faustino, Alberta, et al. | Artigo | Acesso aberto |
2018 | Identification of rare de novo epigenetic variations in congenital disorders | Barbosa, Mafalda; Joshi, Ricky S.; Garg, Paras, et al. | Artigo | Acesso aberto |
Set-2015 | Institutionalization and indiscriminate social behavior: differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes | Mesquita, Ana Raquel Marcelino; Belsky, J.; Li, Z., et al. | Artigo | Acesso restrito UMinho |
2019 | Lack of KBTBD4 mutations in molecularly classified Brazilian medulloblastomas | Leal, Letícia Ferro; Cavagna, Rodrigo de Oliveira; Campanella, Nathalia Cristina, et al. | Artigo | Acesso restrito autor |
2019 | Late ophthalmologic referral of anisometropic amblyopia: a retrospective study of different amblyopia subtypes | Vieira, Maria João; Guimarães, Sandra Viegas; Costa, Patrício Soares, et al. | Artigo | Acesso aberto |
Jun-2007 | MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients | Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile, et al. | Artigo | Acesso restrito UMinho |
2007 | Molecular alterations of KIT oncogene in gliomas | Gomes, Ana L.; Reis-Filho, Jorge S.; Lopes, José M., et al. | Artigo | Acesso restrito UMinho |
30-Jul-2008 | Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type | Temudo, Teresa; Ramos, Elisabete; Dias, Karin, et al. | Artigo | Acesso restrito UMinho |
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 |
2018 | New pediatric risk factors for amblyopia: strabismic versus refractive | Guimarães, Sandra; Vieira, Maria; Queirós, Tatiana Sofia Monteiro, et al. | Artigo | Acesso aberto |
Set-2018 | Preliminary assessment of a dry-lab model for laparoscopic percutaneous inguinal ring suture training | Coelho, Ana; Mendes, Luís; Correia-Pinto, Jorge, et al. | Artigo | Acesso restrito autor |