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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Hermida-Ameijeiras Á, Sánchez-Pintos P, de Castro MJ, León SR, Gil-Fournier B, Domínguez-González C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Barbosa-Gouveia S, et al. Among authors: gonzalez vioque e. J Clin Med. 2022 May 12;11(10):2750. doi: 10.3390/jcm11102750. J Clin Med. 2022. PMID: 35628876 Free PMC article.
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Barbosa-Gouveia S, Vázquez-Mosquera ME, Gonzalez-Vioque E, Hermida-Ameijeiras Á, Valverde LL, Armstrong-Moron J, Fons-Estupiña MDC, Wintjes LT, Kappen A, Rodenburg RJ, Couce ML. Barbosa-Gouveia S, et al. Among authors: gonzalez vioque e. Int J Mol Sci. 2021 Dec 15;22(24):13484. doi: 10.3390/ijms222413484. Int J Mol Sci. 2021. PMID: 34948281 Free PMC article.
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
Vázquez-Mosquera ME, González-Vioque E, Barbosa-Gouveia S, Bellido-Guerrero D, Tejera-Pérez C, Martinez-Olmos MA, Fernández-Pombo A, Castaño-González LA, Chans-Gerpe R, Couce ML. Vázquez-Mosquera ME, et al. Among authors: gonzalez vioque e. Orphanet J Rare Dis. 2022 Mar 4;17(1):105. doi: 10.1186/s13023-022-02263-3. Orphanet J Rare Dis. 2022. PMID: 35246208 Free PMC article.
Editorial: NGS technologies of rare diseases diagnosis.
Couce ML, González-Vioque E. Couce ML, et al. Among authors: gonzalez vioque e. Front Pediatr. 2022 Nov 12;10:1032359. doi: 10.3389/fped.2022.1032359. eCollection 2022. Front Pediatr. 2022. PMID: 36444169 Free PMC article. No abstract available.
Detection and molecular diagnosis of a new case of congenital analbuminaemia.
Cabrejas Núñez MJ, Izquierdo Álvarez C, Gónzalez Vioque E, Almería Lafuente A, Silvestre Mardomingo RÁ. Cabrejas Núñez MJ, et al. Med Clin (Barc). 2020 Apr 10;154(7):275-278. doi: 10.1016/j.medcli.2019.10.013. Epub 2020 Jan 9. Med Clin (Barc). 2020. PMID: 31928748 English, Spanish.
36 results