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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: samuelsson l. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
Male Rett phenotypes in T158M and R294X MeCP2-mutations.
Lundvall M, Samuelsson L, Kyllerman M. Lundvall M, et al. Among authors: samuelsson l. Neuropediatrics. 2006 Oct;37(5):296-301. doi: 10.1055/s-2006-924613. Neuropediatrics. 2006. PMID: 17236109
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Darin N, Reid E, Prunetti L, Samuelsson L, Husain RA, Wilson M, El Yacoubi B, Footitt E, Chong WK, Wilson LC, Prunty H, Pope S, Heales S, Lascelles K, Champion M, Wassmer E, Veggiotti P, de Crécy-Lagard V, Mills PB, Clayton PT. Darin N, et al. Among authors: samuelsson l. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011. Am J Hum Genet. 2016. PMID: 27912044 Free PMC article.
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.
Knight J, Spain SL, Capon F, Hayday A, Nestle FO, Clop A; Wellcome Trust Case Control Consortium; Genetic Analysis of Psoriasis Consortium; I-chip for Psoriasis Consortium; Barker JN, Weale ME, Trembath RC. Knight J, et al. Hum Mol Genet. 2012 Dec 1;21(23):5185-92. doi: 10.1093/hmg/dds344. Epub 2012 Aug 21. Hum Mol Genet. 2012. PMID: 22914738 Free PMC article.
Differences in small intestinal apparent amino acid digestibility of raw bovine, caprine, and ovine milk are explained by gastric amino acid retention in piglets as an infant model.
Ahlborn NG, Montoya CA, Roy D, Roy NC, Stroebinger N, Ye A, Samuelsson LM, Moughan PJ, McNabb WC. Ahlborn NG, et al. Among authors: samuelsson lm. Front Nutr. 2023 Sep 4;10:1226638. doi: 10.3389/fnut.2023.1226638. eCollection 2023. Front Nutr. 2023. PMID: 37731403 Free PMC article.
Protocolised reduction of non-resuscitation fluids versus usual care in patients with septic shock (REDUSE): a protocol for a multicentre feasibility trial.
Lindén A, Fisher J, Lilja G, Olsen MH, Sjövall F, Jungner M, Spångfors M, Samuelsson L, Oras J, Linder A, Unden J, Kander T, Lipcsey M, Nielsen N, Jakobsen JC, Bentzer P. Lindén A, et al. Among authors: samuelsson l. BMJ Open. 2023 Feb 28;13(2):e065392. doi: 10.1136/bmjopen-2022-065392. BMJ Open. 2023. PMID: 36854601 Free PMC article.
Weaning from mechanical ventilation in intensive care units across 50 countries (WEAN SAFE): a multicentre, prospective, observational cohort study.
Pham T, Heunks L, Bellani G, Madotto F, Aragao I, Beduneau G, Goligher EC, Grasselli G, Laake JH, Mancebo J, Peñuelas O, Piquilloud L, Pesenti A, Wunsch H, van Haren F, Brochard L, Laffey JG; WEAN SAFE Investigators. Pham T, et al. Lancet Respir Med. 2023 May;11(5):465-476. doi: 10.1016/S2213-2600(22)00449-0. Epub 2023 Jan 21. Lancet Respir Med. 2023. PMID: 36693401
156 results