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Did you mean paola jorge (117 results)?
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, Nassogne MC, Walsh CA, Stouffs K, Jorge P, Jansen AC, Foulquier F. Maia N, et al. Among authors: jorge p. Am J Hum Genet. 2022 Feb 3;109(2):345-360. doi: 10.1016/j.ajhg.2021.12.010. Epub 2022 Jan 18. Am J Hum Genet. 2022. PMID: 35045343 Free PMC article.
Research on Cleft Lip and Palate: What Is New?
Ambrosio ECP, Jorge PK, Carrara CFC, Machado MAAM, Oliveira TM. Ambrosio ECP, et al. Among authors: jorge pk. Children (Basel). 2023 Dec 25;11(1):25. doi: 10.3390/children11010025. Children (Basel). 2023. PMID: 38255339 Free PMC article.
Current Perspectives on Cleft Lip and Palate and Children's Health.
Jorge PK, Ambrosio ECP, Mello-Peixoto YCT, Carrara CFC, Soares S, Almeida ALPF, Machado MAAM, Oliveira TM. Jorge PK, et al. Children (Basel). 2023 May 11;10(5):857. doi: 10.3390/children10050857. Children (Basel). 2023. PMID: 37238405 Free PMC article.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: jorge p. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.
58 results