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Molecular Oncology|January 11, 2020
A novel molecular link between HOXA9 and WNT6 in glioblastoma identifies a subgroup of patients with particular poor prognosisCéline S Gonçalves, Ana Xavier-Magalhães, Eduarda P Martins, et al.
Journal of Human Genetics|March 6, 2015
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencingJorge Oliveira, Luís Negrão, Isabel Fineza, et al.
European Journal of Human Genetics : EJHG|September 13, 2012
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific databaseJorge Oliveira, Márcia E Oliveira, Wolfram Kress, et al.
Arquivos De Neuro-Psiquiatria|February 6, 2004
[A retrospective study of Creutzfeldt-Jakob disease in North of Portugal 1993-2002: demographic, clinical and neuropathological features]Ana Martins Silva, Manuel Melo Pires, Antonio J Bastos Leite, et al.
Journal of Human Genetics|February 5, 2016
New massive parallel sequencing approach improves the genetic characterization of congenital myopathiesJorge Oliveira, Ana Gonçalves, Ricardo Taipa, et al.
Neurogenetics|March 28, 2013
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiencyCélia Nogueira, José Barros, Maria José Sá, et al.
Cellular Oncology (Dordrecht, Netherlands)|November 9, 2019
Loss of SPINT2 expression frequently occurs in glioma, leading to increased growth and invasion via MMP2Márcia Santos Pereira, Sónia Pires Celeiro, Ângela Margarida Costa, et al.
Theranostics|October 4, 2018
WNT6 is a novel oncogenic prognostic biomarker in human glioblastomaCéline S Gonçalves, Joana Vieira de Castro, Marta Pojo, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|October 1, 2011
Impact of EGFR genetic variants on glioma risk and patient outcomeBruno Marques Costa, Marta Viana-Pereira, Ricardo Fernandes, et al.
Human Mutation|July 29, 2018
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypesJorge Oliveira, Angela Gruber, Márcio Cardoso, et al.
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