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Page 1
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
Quelhas D, Martins E, Azevedo L, Bandeira A, Diogo L, Garcia P, Sequeira S, Ferreira AC, Teles EL, Rodrigues E, Fortuna AM, Mendonça C, Fernandes HC, Medeira A, Gaspar A, Janeiro P, Oliveira A, Laranjeira F, Ribeiro I, Souche E, Race V, Keldermans L, Matthijs G, Jaeken J. Quelhas D, et al. Among authors: mendonca c. J Pediatr. 2021 Apr;231:148-156. doi: 10.1016/j.jpeds.2020.12.026. Epub 2020 Dec 17. J Pediatr. 2021. PMID: 33340551
Screening for Pompe disease in a Portuguese high risk population.
Almeida V, Conceição I, Fineza I, Coelho T, Silveira F, Santos M, Valverde A, Geraldo A, Maré R, Aguiar TC, Mendonça C, Martins J, Medeiros L, Barroso C, Vieira JP, Moreno T, Negrão L, Dias MS, Lacerda L, Evangelista T. Almeida V, et al. Among authors: mendonca c. Neuromuscul Disord. 2017 Aug;27(8):777-781. doi: 10.1016/j.nmd.2017.03.010. Epub 2017 Mar 29. Neuromuscul Disord. 2017. PMID: 28554557
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium; Boycott KM, Kernohan KD, Dyack S, Raymond FL. Ito Y, et al. Among authors: mendonca c. Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961568 Free PMC article.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S. Lemke JR, et al. Among authors: mendonca c. Neurology. 2016 Jun 7;86(23):2171-8. doi: 10.1212/WNL.0000000000002740. Epub 2016 May 6. Neurology. 2016. PMID: 27164704 Free PMC article.
Comparison of the accuracy of four diagnostic prediction rules for pulmonary embolism in patients admitted to the emergency department.
Silva BV, Jorge C, Plácido R, Menezes MN, Mendonça C, Urbano ML, Rigueira J, Almeida AG, Pinto FJ. Silva BV, et al. Among authors: mendonca c. Rev Port Cardiol. 2024 Apr 23:S0870-2551(24)00106-9. doi: 10.1016/j.repc.2024.02.006. Online ahead of print. Rev Port Cardiol. 2024. PMID: 38663529 Free article. English, Portuguese.
528 results