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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study; Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. Palmer EE, et al. Among authors: bernardo e. Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23. Mol Psychiatry. 2018. PMID: 27550844 Free PMC article.
Mortality prediction in pediatric trauma.
Muisyo T, Bernardo EO, Camazine M, Colvin R, Thomas KA, Borgman MA, Spinella PC. Muisyo T, et al. J Pediatr Surg. 2019 Aug;54(8):1613-1616. doi: 10.1016/j.jpedsurg.2018.08.045. Epub 2018 Sep 7. J Pediatr Surg. 2019. PMID: 30270118
Enhancing HIV positivity yield in southern Mozambique: The effect of a Ministry of Health training module in targeted provider-initiated testing and counselling.
Saura-Lázaro A, Fernández-Luis S, Nhampossa T, Fuente-Soro L, López-Varela E, Bernardo E, Augusto O, Sánchez T, Vaz P, Wei SC, Kerndt P, Honwana N, Young P, Amane G, Boene F, Naniche D. Saura-Lázaro A, et al. Among authors: bernardo e. PLoS One. 2024 May 23;19(5):e0303063. doi: 10.1371/journal.pone.0303063. eCollection 2024. PLoS One. 2024. PMID: 38781226 Free PMC article.
REKOVER study protocol: a pRospective patient treatment rEgistry of tramadol and dexKetoprofen trometamol oral fixed-dose combination (SKUDEXA) in mOderate to seVere acutE pain in Real-world setting in Asia.
Ho KY, Gyanwali B, Dimayuga C, Eufemio EM, Bernardo E, Raju G, Chong KW, Waithayayothin K, Ona L, Castro MAL, Sawaddiruk P, Salvador RC, Roohi SA, Tangwiwat S, Wilairatana V, Oon ZH, Gupta A, Nagrale D. Ho KY, et al. Among authors: bernardo e. BMJ Open. 2024 Mar 19;14(3):e080620. doi: 10.1136/bmjopen-2023-080620. BMJ Open. 2024. PMID: 38508619 Free PMC article.
161 results