Couce ML - Search Results

1

Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.

de Castro MJ, González-Vioque E, Barbosa-Gouveia S, Salguero E, Rite S, López-Suárez O, Pérez-Muñuzuri A, Couce ML. de Castro MJ, et al. Among authors: couce ml. J Clin Med. 2020 Jul 23;9(8):2362. doi: 10.3390/jcm9082362. J Clin Med. 2020. PMID: 32718099 Free PMC article.

2

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: couce ml. J Clin Med. 2022 May 12;11(10):2750. doi: 10.3390/jcm11102750. J Clin Med. 2022. PMID: 35628876 Free PMC article.

3

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.

Barbosa-Gouveia S, González-Vioque E, Borges F, Gutiérrez-Solana L, Wintjes L, Kappen A, van den Heuvel L, Leis R, Rodenburg R, Couce ML. Barbosa-Gouveia S, et al. Among authors: couce ml. J Clin Med. 2019 Aug 20;8(8):1262. doi: 10.3390/jcm8081262. J Clin Med. 2019. PMID: 31434271 Free PMC article.

4

Validation of an IGF1 Screening Method for Retinopathy of Pre-maturity.

Pérez-Muñuzuri A, López-Suárez O, Mandiá-Rodríguez N, López-Sanguos C, Blanco-Teijeiro MJ, Couce ML. Pérez-Muñuzuri A, et al. Among authors: couce ml. Front Pediatr. 2020 Dec 14;8:615716. doi: 10.3389/fped.2020.615716. eCollection 2020. Front Pediatr. 2020. PMID: 33381481 Free PMC article.

5

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.

Barbosa-Gouveia S, González-Vioque E, Hermida Á, Suarez MU, Martínez-González MJ, Borges F, Wintjes L, Kappen A, Rodenburg R, Couce ML. Barbosa-Gouveia S, et al. Among authors: couce ml. Genes (Basel). 2020 Sep 2;11(9):1028. doi: 10.3390/genes11091028. Genes (Basel). 2020. PMID: 32887222 Free PMC article.

6

Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art.

de Castro MJ, Del Toro M, Giugliani R, Couce ML. de Castro MJ, et al. Among authors: couce ml. Int J Mol Sci. 2021 Aug 25;22(17):9200. doi: 10.3390/ijms22179200. Int J Mol Sci. 2021. PMID: 34502108 Free PMC article. Review.

7

Bone Status in Patients with Phenylketonuria: A Systematic Review.

de Castro MJ, de Lamas C, Sánchez-Pintos P, González-Lamuño D, Couce ML. de Castro MJ, et al. Among authors: couce ml. Nutrients. 2020 Jul 20;12(7):2154. doi: 10.3390/nu12072154. Nutrients. 2020. PMID: 32698408 Free PMC article.

8

Similarities between acylcarnitine profiles in large for gestational age newborns and obesity.

Sánchez-Pintos P, de Castro MJ, Roca I, Rite S, López M, Couce ML. Sánchez-Pintos P, et al. Among authors: couce ml. Sci Rep. 2017 Nov 24;7(1):16267. doi: 10.1038/s41598-017-15809-4. Sci Rep. 2017. PMID: 29176728 Free PMC article.

9

Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing.

Brión M, de Castro López MJ, Santori M, Pérez Muñuzuri A, López Abel B, Baña Souto AM, Martínez Soto MI, Couce ML. Brión M, et al. Among authors: couce ml. Am J Clin Pathol. 2016 Apr;145(4):507-13. doi: 10.1093/ajcp/aqw025. Epub 2016 Apr 22. Am J Clin Pathol. 2016. PMID: 27124939

10

Effects of LC-PUFA Supplementation in Patients with Phenylketonuria: A Systematic Review of Controlled Trials.

Couce ML, de Castro MJ, de Lamas C, Leis R. Couce ML, et al. Nutrients. 2019 Jul 6;11(7):1537. doi: 10.3390/nu11071537. Nutrients. 2019. PMID: 31284588 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

258 results

Search Page

Filters