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Preterm Infant with Craniofacial Dysmorphic Features and Posture.
Carvalho J, Rolim S, Novo A, Proença E, Mota C, Carvalho C. Carvalho J, et al. Among authors: mota c. Neoreviews. 2022 Mar 1;23(3):e208-e211. doi: 10.1542/neo.23-3-e208. Neoreviews. 2022. PMID: 35229138 No abstract available.
A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.
Ratola A, Silva HM, Guedes A, Mota C, Braga AC, Oliveira D, Alegria A, Carvalho C, Álvares S, Proença E. Ratola A, et al. Among authors: mota c. Pediatr Rep. 2015 Jun 24;7(2):5955. doi: 10.4081/pr.2015.5955. eCollection 2015 May 25. Pediatr Rep. 2015. PMID: 26266034 Free PMC article.
A Neonatal Abdominal Wall Defect.
Pimenta S, Barbosa J, Castro L, Lopes L, Mota C, Carvalho C, Pereira S. Pimenta S, et al. Among authors: mota c. Neoreviews. 2022 Sep 1;23(9):e650-e652. doi: 10.1542/neo.23-9-e650. Neoreviews. 2022. PMID: 36047757 No abstract available.
Genomic imbalances defining novel intellectual disability associated loci.
Lopes F, Torres F, Soares G, Barbosa M, Silva J, Duque F, Rocha M, Sá J, Oliveira G, Sá MJ, Temudo T, Sousa S, Marques C, Lopes S, Gomes C, Barros G, Jorge A, Rocha F, Martins C, Mesquita S, Loureiro S, Cardoso EM, Cálix MJ, Dias A, Martins C, Mota CR, Antunes D, Dupont J, Figueiredo S, Figueiroa S, Gama-de-Sousa S, Cruz S, Sampaio A, Eijk P, Weiss MM, Ylstra B, Rendeiro P, Tavares P, Reis-Lima M, Pinto-Basto J, Fortuna AM, Maciel P. Lopes F, et al. Among authors: mota cr. Orphanet J Rare Dis. 2019 Jul 5;14(1):164. doi: 10.1186/s13023-019-1135-0. Orphanet J Rare Dis. 2019. PMID: 31277718 Free PMC article.
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML. Barbosa M, et al. Among authors: mota c, mota mdo c. Clin Genet. 2012 Jan;81(1):47-55. doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14. Clin Genet. 2012. PMID: 21255007
473 results