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854 results

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Page 1
Vaginal Metastases of Wilms' Tumor in a Pediatric Patient: A Rare Case.
Arion K, Dufour S, Ramphal R, Villani A, Malkin D, Shlien A, Kanwar N, Sawyer S, Dumont T. Arion K, et al. Among authors: sawyer s. J Pediatr Adolesc Gynecol. 2023 Aug;36(4):424-427. doi: 10.1016/j.jpag.2023.01.001. Epub 2023 Jan 18. J Pediatr Adolesc Gynecol. 2023. PMID: 36669618
Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions.
Ungar WJ, Hayeems RZ, Marshall CR, Gillespie MK, Szuto A, Chisholm C, James Stavropoulos D, Huang L, Jarinova O, Wu V, Tsiplova K, Lau L, Lee W, Venkataramanan V, Sawyer S, Mendoza-Londono R, Somerville MJ, Boycott KM; Genome Sequencing Ontario Secondary Findings Study Team. Ungar WJ, et al. Among authors: sawyer s. Clin Ther. 2023 Aug;45(8):702-709. doi: 10.1016/j.clinthera.2023.06.004. Epub 2023 Jul 14. Clin Ther. 2023. PMID: 37453830
Canakinumab in addition to phosphate-binding and phosphaturia-inducing therapy were effective in achieving remission in a child with a large familial calcinotic tumour.
Ochoa M, Jurencak R, Smit K, Carsen S, Sawyer SL, Robinson ME, Khatchadourian K, Cheng HP, Pagé M, Werier J, Ward LM. Ochoa M, et al. Among authors: sawyer sl. Bone Rep. 2023 Jun 15;19:101695. doi: 10.1016/j.bonr.2023.101695. eCollection 2023 Dec. Bone Rep. 2023. PMID: 37520934 Free PMC article.
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: sawyer sl. 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
Global pattern, trend, and cross-country inequality of early musculoskeletal disorders from 1990 to 2019, with projection from 2020 to 2050.
GBD 2019 MSK in Adolescents Collaborators. Electronic address: dongze_wu@163.com; GBD 2019 MSK in Adolescents Collaborators. GBD 2019 MSK in Adolescents Collaborators. Electronic address: dongze_wu@163.com, et al. Med. 2024 May 30:S2666-6340(24)00179-X. doi: 10.1016/j.medj.2024.04.009. Online ahead of print. Med. 2024. PMID: 38834074
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: sawyer sl. 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.
Persistence and Variation of the Indirect Effects of COVID-19 Restrictions on the Spectrum of Notifiable Infectious Diseases in China: Analysis of National Surveillance Among Children and Adolescents From 2018 to 2021.
Chen L, Wang L, Xing Y, Xie J, Su B, Geng M, Ren X, Zhang Y, Liu J, Ma T, Chen M, Miller JE, Dong Y, Song Y, Ma J, Sawyer S. Chen L, et al. Among authors: sawyer s. JMIR Public Health Surveill. 2024 May 15;10:e47626. doi: 10.2196/47626. JMIR Public Health Surveill. 2024. PMID: 38748469 Free PMC article.
854 results