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701 results

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Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
Casals T, Pacheco P, Barreto C, Giménez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vázquez C, Rocha H, Séculi JL, Pérez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X. Casals T, et al. Among authors: rocha h. Hum Mutat. 1997;10(5):387-92. doi: 10.1002/(SICI)1098-1004(1997)10:5<387::AID-HUMU9>3.0.CO;2-C. Hum Mutat. 1997. PMID: 9375855
[Celiac disease, cystic fibrosis and dilated cardiomyopathy].
Lima RM, Rocha C, Alvares S, Rocha A, Senra V, Rocha H. Lima RM, et al. Among authors: rocha h, rocha a, rocha c. An Pediatr (Barc). 2004 Aug;61(2):193-4. doi: 10.1016/s1695-4033(04)78387-3. An Pediatr (Barc). 2004. PMID: 15274894 Free article. Spanish. No abstract available.
[Intestinal subocclusion due to congenital trichobezoar].
Proença E, Carvalho C, Ferreira P, Rocha H, Rosario C. Proença E, et al. Among authors: rocha h. An Pediatr (Barc). 2003 Feb;58(2):192-3. doi: 10.1016/s1695-4033(03)78028-x. An Pediatr (Barc). 2003. PMID: 12628154 Free article. Spanish. No abstract available.
Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.
Lima RM, Costa E, Rocha C, Vieira E, dos Santos R, Barbot J, Rocha H. Lima RM, et al. Among authors: rocha h, rocha c. J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):115-6. doi: 10.1097/01.mpg.0000155184.61625.fc. J Pediatr Gastroenterol Nutr. 2005. PMID: 15990640 Free article. No abstract available.
Catalyzing sustainable development: insights from the international workshop on STI policies and innovation systems in Central America.
Huete-Pérez JA, Hernández-Mondragón AC, Massey DS, Cumba García LM, Amadei B, De León Sautú N, Acosta ML, Asensio O, Boright J, Cosgrove S, Hernández Hernández E, López-Selva M, Manfredi JL, Mondragón F, Natera JM, Picardo Joao OC, Rivero Santos A, Rocha HO. Huete-Pérez JA, et al. Among authors: rocha ho. Front Res Metr Anal. 2024 Dec 11;9:1511393. doi: 10.3389/frma.2024.1511393. eCollection 2024. Front Res Metr Anal. 2024. PMID: 39722835 Free PMC article.
701 results