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Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H, Silva MJ, Florindo C, Sequeira S, Ferreira AC, Duarte S, Rodrigues AL, Janeiro P, Oliveira A, Gomes D, Bandeira A, Martins E, Gomes R, Soares S, Tavares de Almeida I, Vicente JB, Rivera I. Pavlu-Pereira H, et al. Among authors: gomes d, gomes r. Orphanet J Rare Dis. 2020 Oct 22;15(1):298. doi: 10.1186/s13023-020-01586-3. Orphanet J Rare Dis. 2020. PMID: 33092611 Free PMC article.
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Pereira SA, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P. Temudo T, et al. Among authors: gomes r. Brain Dev. 2011 Jan;33(1):69-76. doi: 10.1016/j.braindev.2010.01.004. Epub 2010 Feb 8. Brain Dev. 2011. PMID: 20116947 Free article.
Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P. Temudo T, et al. Among authors: gomes r. Neurology. 2007 Apr 10;68(15):1183-7. doi: 10.1212/01.wnl.0000259086.34769.78. Neurology. 2007. PMID: 17420401
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.
Temudo T, Ramos E, Dias K, Barbot C, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Fonseca M, Cabral A, Cabral P, Monteiro JP, Borges L, Gomes R, Santos M, Sequeiros J, Maciel P. Temudo T, et al. Among authors: gomes r. Mov Disord. 2008 Jul 30;23(10):1384-90. doi: 10.1002/mds.22115. Mov Disord. 2008. PMID: 18512755
A shape-changing haptic navigation interface for vision impairment.
Quinn R, Murtough S, de Winton H, Ellis-Frew B, Zane S, De Sousa J, Kempapidis T, Gomes RSM, Spiers AJ. Quinn R, et al. Among authors: gomes rsm. Sci Rep. 2024 Dec 10;14(1):29223. doi: 10.1038/s41598-024-79845-7. Sci Rep. 2024. PMID: 39658590 Free PMC article.
Search for CP-Violating Neutrino Nonstandard Interactions with the NOvA Experiment.
Acero MA, Acharya B, Adamson P, Aliaga L, Anfimov N, Antoshkin A, Arrieta-Diaz E, Asquith L, Aurisano A, Back A, Balashov N, Baldi P, Bambah BA, Bat A, Bays K, Bernstein R, Bezerra TJC, Bhatnagar V, Bhattarai D, Bhuyan B, Bian J, Booth AC, Bowles R, Brahma B, Bromberg C, Buchanan N, Butkevich A, Calvez S, Carroll TJ, Catano-Mur E, Cesar JP, Chatla A, Chaudhary S, Chirco R, Choudhary BC, Christensen A, Cicala MF, Coan TE, Cooleybeck A, Cortes-Parra C, Coveyou D, Cremonesi L, Davies GS, Derwent PF, Djurcic Z, Dolce M, Doyle D, Dueñas Tonguino D, Dukes EC, Dye A, Ehrlich R, Ewart E, Filip P, Franc J, Frank MJ, Gallagher HR, Gao F, Giri A, Gomes RA, Goodman MC, Groh M, Group R, Habig A, Hakl F, Hartnell J, Hatcher R, He M, Heller K, Hewes V, Himmel A, Ivaneev Y, Ivanova A, Jargowsky B, Jarosz J, Johnson C, Judah M, Kakorin I, Kaplan DM, Kalitkina A, Kleykamp J, Klimov O, Koerner LW, Kolupaeva L, Kralik R, Kuruppu CD, Kus V, Lackey T, Lang K, Lesmeister J, Lister A, Liu J, Lock JA, Lokajicek M, MacMahon M, Magill S, Mann WA, Manoharan MT, Manrique Plata M, Marshak ML, Martinez-Casales M, Matveev V, Mehta B, Messier MD, Meyer H, Miao T, Mikola V, Miller WH, Mishra S, Mishra SR, M… See abstract for full author list ➔ Acero MA, et al. Among authors: gomes ra. Phys Rev Lett. 2024 Nov 15;133(20):201802. doi: 10.1103/PhysRevLett.133.201802. Phys Rev Lett. 2024. PMID: 39626707
1,512 results