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65 results

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Page 1
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL. Meester JAN, et al. Among authors: mcmanus ml. NPJ Genom Med. 2024 Mar 26;9(1):22. doi: 10.1038/s41525-024-00413-z. NPJ Genom Med. 2024. PMID: 38531898 Free PMC article.
Shifting Goals in Operating Room Management.
McManus ML. McManus ML. A A Case Rep. 2016 Mar 15;6(6):181-2. doi: 10.1213/XAA.0000000000000256. A A Case Rep. 2016. PMID: 26954081 No abstract available.
Recommendations for assessing appearance concerns related to plexiform and cutaneous neurofibromas in neurofibromatosis 1 clinical trials.
Merker VL, Thompson HL, Wolters PL, Buono FD, Hingtgen CM, Rosser T, Barton B, Barnett C, Smith T, Haberkamp D, McManus ML, Baldwin A, Moss IP, Röhl C, Martin S. Merker VL, et al. Among authors: mcmanus ml. Clin Trials. 2024 Feb;21(1):6-17. doi: 10.1177/17407745231205577. Epub 2023 Dec 23. Clin Trials. 2024. PMID: 38140900 Free PMC article.
TOPORS as a novel causal gene for Joubert syndrome.
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H. Strong A, et al. Among authors: mcmanus ml. Am J Med Genet A. 2023 Aug;191(8):2156-2163. doi: 10.1002/ajmg.a.63303. Epub 2023 May 25. Am J Med Genet A. 2023. PMID: 37227088 Free PMC article.
Parameters of care for craniosynostosis.
McCarthy JG, Warren SM, Bernstein J, Burnett W, Cunningham ML, Edmond JC, Figueroa AA, Kapp-Simon KA, Labow BI, Peterson-Falzone SJ, Proctor MR, Rubin MS, Sze RW, Yemen TA; Craniosynostosis Working Group. McCarthy JG, et al. Cleft Palate Craniofac J. 2012 Jan;49 Suppl:1S-24S. doi: 10.1597/11-138. Epub 2011 Aug 17. Cleft Palate Craniofac J. 2012. PMID: 21848431
65 results