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856 results

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Page 1
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
Akizu N, Shembesh NM, Ben-Omran T, Bastaki L, Al-Tawari A, Zaki MS, Koul R, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, da Gente G, Li J, Deardorff MA, Conlin LK, Horton MA, Zackai EH, Sherr EH, Gleeson JG. Akizu N, et al. Among authors: horton ma. Am J Hum Genet. 2013 Mar 7;92(3):392-400. doi: 10.1016/j.ajhg.2013.02.004. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453666 Free PMC article.
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
Reinstein E, Frentz S, Morgan T, García-Miñaúr S, Leventer RJ, McGillivray G, Pariani M, van der Steen A, Pope M, Holder-Espinasse M, Scott R, Thompson EM, Robertson T, Coppin B, Siegel R, Bret Zurita M, Rodríguez JI, Morales C, Rodrigues Y, Arcas J, Saggar A, Horton M, Zackai E, Graham JM, Rimoin DL, Robertson SP. Reinstein E, et al. Among authors: horton m. Eur J Hum Genet. 2013 May;21(5):494-502. doi: 10.1038/ejhg.2012.209. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032111 Free PMC article.
Hospital-level volume in extracorporeal membrane oxygenation cases and death or disability at 6 months.
Ertugrul AD, Neto AS, Fulcher BJ, Charles-Nelson A, Bailey M, Burrell AJC, Anderson S, Bernard S, Board JV, Brodie D, Buhr H, Cooper DJ, Dicker C, Fan E, Fraser JF, Gattas DJ, Hopper IK, Huckson S, Linke NJ, Litton E, McGuinness SP, Nair P, Orford N, Parke RL, Pellegrino VA, Pilcher DV, Stub D, Udy AA, Reddi BAJ, Trapani TV, Jones A, Higgins AM, Hodgson CL; EXCEL Study Investigators and the International ECMO Network (ECMONet). Ertugrul AD, et al. Crit Care Resusc. 2024 Nov 22;26(4):262-270. doi: 10.1016/j.ccrj.2024.08.006. eCollection 2024 Dec. Crit Care Resusc. 2024. PMID: 39781494 Free PMC article.
The impact of a tailored nutrition intervention delivered for the duration of hospitalisation on daily energy delivery for patients with critical illness (INTENT): a phase II randomised controlled trial.
Ridley EJ, Bailey M, Chapman MJ, Chapple LS, Deane AM, Gojanovic M, Higgins AM, Hodgson CL, King VL, Marshall AP, Miller EG, McGuinness SP, Parke RL, Paul E, Udy AA; Australian, New Zealand Intensive Care Society Clinical Trials Group. Ridley EJ, et al. Crit Care. 2025 Jan 6;29(1):8. doi: 10.1186/s13054-024-05189-3. Crit Care. 2025. PMID: 39762887 Free PMC article. Clinical Trial.
856 results