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Page 1
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. Mullegama SV, et al. Among authors: hare h. Am J Hum Genet. 2024 May 14:S0002-9297(24)00167-8. doi: 10.1016/j.ajhg.2024.05.004. Online ahead of print. Am J Hum Genet. 2024. PMID: 38749428 No abstract available.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J. Mullegama SV, et al. Among authors: hare h. Am J Hum Genet. 2024 Apr 4;111(4):778-790. doi: 10.1016/j.ajhg.2024.02.016. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531365
Peri-operative cardiac arrest: management and outcomes of patients analysed in the 7th National Audit Project of the Royal College of Anaesthetists.
Armstrong RA, Cook TM, Kane AD, Kursumovic E, Nolan JP, Oglesby FC, Cortes L, Taylor C, Moppett IK, Agarwal S, Cordingley J, Davies MT, Dorey J, Finney SJ, Kendall S, Kunst G, Lucas DN, Mouton R, Nickols G, Pappachan VJ, Patel B, Plaat F, Scholefield BR, Smith JH, Varney L, Wain E, Soar J; collaborators. Armstrong RA, et al. Anaesthesia. 2024 Jan;79(1):31-42. doi: 10.1111/anae.16157. Epub 2023 Nov 16. Anaesthesia. 2024. PMID: 37972480
The incidence of potentially serious complications during non-obstetric anaesthetic practice in the United Kingdom: an analysis from the 7th National Audit Project (NAP7) activity survey.
Kane AD, Cook TM, Armstrong RA, Kursumovic E, Davies MT, Agarwal S, Nolan JP, Smith JH, Moppett IK, Oglesby FC, Cortes L, Taylor C, Cordingley J, Dorey J, Finney SJ, Kunst G, Lucas DN, Nickols G, Mouton R, Patel B, Pappachan VJ, Plaat F, Scholefield BR, Varney L, Soar J; collaborators. Kane AD, et al. Anaesthesia. 2024 Jan;79(1):43-53. doi: 10.1111/anae.16155. Epub 2023 Nov 9. Anaesthesia. 2024. PMID: 37944508
Organisation of UK hospitals and anaesthetic departments in the treatment of peri-operative cardiac arrest: an analysis from the 7th National Audit Project (NAP7) local co-ordinator baseline survey.
Kursumovic E, Soar J, Nolan JP, Plaat F, Kane AD, Armstrong RA, Davies MT, Oglesby FC, Cortes L, Taylor C, Moppett IK, Agarwal S, Cordingley J, Dorey J, Finney SJ, Kunst G, Lucas DN, Nickols G, Mouton R, Patel B, Pappachan VJ, Scholefield BR, Smith JH, Varney L, Cook TM; Collaborators. Kursumovic E, et al. Anaesthesia. 2023 Dec;78(12):1442-1452. doi: 10.1111/anae.16153. Epub 2023 Nov 3. Anaesthesia. 2023. PMID: 37920932
The 7th National Audit Project (NAP7) baseline survey of individual anaesthetists: preparedness for and experiences of peri-operative cardiac arrest.
Kursumovic E, Cook TM, Lucas DN, Davies MT, Martin S, Kane AD, Armstrong RA, Oglesby FC, Cortes L, Taylor C, Moppett IK, Agarwal S, Beecham E, Cordingley J, Dorey J, Finney SJ, Kunst G, Nickols G, Mouton R, Nolan JP, Patel B, Pappachan VJ, Plaat F, Scholefield BR, Smith JH, Varney L, Wain EC, Soar J; collaborators. Kursumovic E, et al. Anaesthesia. 2023 Dec;78(12):1453-1464. doi: 10.1111/anae.16154. Epub 2023 Nov 3. Anaesthesia. 2023. PMID: 37920919
Trying to fit in: dressing like a doctor.
Womersley K, Hare H, Kelly SB, Wilcockson E. Womersley K, et al. Among authors: hare h. BMJ. 2021 Oct 11;375:n2463. doi: 10.1136/bmj.n2463. BMJ. 2021. PMID: 34635489 No abstract available.
79 results