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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2007 1
2008 1
2009 3
2010 3
2011 4
2012 2
2013 9
2014 6
2015 14
2016 13
2017 15
2018 15
2019 13
2020 11
2021 26
2022 14
2023 6
2024 2

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137 results

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Page 1
Overgrowth syndromes, diagnosis and management.
Klein SD, Nisbet A, Kalish JM. Klein SD, et al. Curr Opin Pediatr. 2023 Dec 1;35(6):620-630. doi: 10.1097/MOP.0000000000001298. Epub 2023 Oct 4. Curr Opin Pediatr. 2023. PMID: 37791807 Review.
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D; Regeneron Genetics Center; Penn Medicine BioBank; Green RC, Gold NB. Gold JI, et al. HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37593415 Free PMC article.
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.
Pyle LC, Kim J, Bradfield J, Damrauer SM, D'Andrea K, Einhorn LH, Godse R, Hakonarson H, Kanetsky PA, Kember RL, Jacobs LA, Maxwell KN, Rader DJ, Vaughn DJ, Weathers B, Wubbenhorst B, Regeneron Genetics Center Research Team, Cancer Genomics Research Laboratory, Greene MH, Nathanson KL, Stewart DR. Pyle LC, et al. Eur Urol. 2024 Apr;85(4):337-345. doi: 10.1016/j.eururo.2023.05.008. Epub 2023 May 26. Eur Urol. 2024. PMID: 37246069
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC. Nomakuchi TT, et al. Am J Med Genet A. 2023 May;191(5):1418-1424. doi: 10.1002/ajmg.a.63148. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36794641 Free PMC article.
ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC. Albokhari D, et al. J Inherit Metab Dis. 2022 Sep;45(5):969-980. doi: 10.1002/jimd.12527. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35716054 Free PMC article.
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.
Zhang X, Lucas AM, Veturi Y, Drivas TG, Bone WP, Verma A, Chung WK, Crosslin D, Denny JC, Hebbring S, Jarvik GP, Kullo I, Larson EB, Rasmussen-Torvik LJ, Schaid DJ, Smoller JW, Stanaway IB, Wei WQ, Weng C, Ritchie MD. Zhang X, et al. Nat Commun. 2022 Jun 14;13(1):3428. doi: 10.1038/s41467-022-30678-w. Nat Commun. 2022. PMID: 35701404 Free PMC article.
137 results