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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. Among authors: burton b. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Among authors: burton bk. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
Achieving Equity in EMS Care and Patient Outcomes through Quality Management Systems: A Position Statement.
Farcas AM, Crowe RP, Kennel J, Little N, Haamid A, Camacho MA, Pleasant T, Owusu-Ansah S, Joiner AP, Tripp R, Kimbrell J, Grover JM, Ashford S, Burton B, Uribe J, Innes JC, Page DI, Taigman M, Dorsett M. Farcas AM, et al. Among authors: burton b. Prehosp Emerg Care. 2024 May 10:1-16. doi: 10.1080/10903127.2024.2352582. Online ahead of print. Prehosp Emerg Care. 2024. PMID: 38727731
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL. Giugliani R, et al. Among authors: burton b. Orphanet J Rare Dis. 2024 May 7;19(1):189. doi: 10.1186/s13023-024-03176-z. Orphanet J Rare Dis. 2024. PMID: 38715031 Free PMC article.
Impact of treat and extend criteria on proportions that can be extended after loading phase of 2 mg aflibercept therapy for neovascular age related macular degeneration: PRECISE Report 5.
Thottarath S, Gurudas S, Chandak S, Patel PJ, Kotagiri A, Pearce I, McKibbin M, Menon G, Burton BJL, Talks J, Grabowska A, Ghanchi F, Gale R, Karatsai E, Chandra S, Sivaprasad S. Thottarath S, et al. Among authors: burton bjl. Eye (Lond). 2024 May 6. doi: 10.1038/s41433-024-03110-4. Online ahead of print. Eye (Lond). 2024. PMID: 38710939
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Harding CO, Longo N, Northrup H, Sacharow S, Singh R, Thomas JA, Vockley J, Zori RT, Bulloch Whitehall K, Lilienstein J, Lindstrom K, Levy DG, Jones S, Burton BK. Harding CO, et al. Among authors: burton bk. Mol Genet Metab Rep. 2024 Apr 23;39:101084. doi: 10.1016/j.ymgmr.2024.101084. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38694233 Free PMC article.
Home-Monitoring Vision Tests to Detect Active Neovascular Age-Related Macular Degeneration.
Hogg RE, Sivaprasad S, Wickens R, O'Connor S, Gidman E, Ward E, Treanor C, Peto T, Burton BJL, Knox P, Lotery AJ, Donnelly M, Rogers CA, Reeves BC. Hogg RE, et al. Among authors: burton bjl. JAMA Ophthalmol. 2024 Apr 25:e240918. doi: 10.1001/jamaophthalmol.2024.0918. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 38662399 Free PMC article.
772 results