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

Year Number of Results
1993 2
1995 1
1996 1
1998 1
1999 1
2000 1
2001 3
2002 1
2003 2
2005 3
2006 2
2007 2
2008 2
2009 1
2010 1
2011 5
2012 3
2013 9
2014 4
2015 8
2016 6
2017 5
2018 8
2019 8
2020 3
2021 5
2022 3
2023 3
2024 3
2025 2

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88 results

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Page 1
PIK3CA-Related Overgrowth Spectrum.
Mirzaa G, Graham JM Jr, Keppler-Noreuil K. Mirzaa G, et al. Among authors: keppler noreuil k. 2013 Aug 15 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2013 Aug 15 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 23946963 Free Books & Documents. Review.
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. Douzgou S, et al. Among authors: keppler noreuil km. Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. Epub 2021 Jul 16. Clin Genet. 2022. PMID: 34240408 Free PMC article. Review.
Cranioectodermal Dysplasia.
Tan W, Lin A, Keppler-Noreuil K. Tan W, et al. Among authors: keppler noreuil k. 2013 Sep 12 [updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2013 Sep 12 [updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24027799 Free Books & Documents. Review.
Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.
Metry D, Copp HL, Rialon KL, Iacobas I, Baselga E, Dobyns WB, Drolet B, Frieden IJ, Garzon M, Haggstrom A, Hanson D, Hollenbach L, Keppler-Noreuil KM, Maheshwari M, Siegel DH, Waseem S, Dias M. Metry D, et al. Among authors: keppler noreuil km. J Pediatr. 2024 Sep;272:114101. doi: 10.1016/j.jpeds.2024.114101. Epub 2024 May 15. J Pediatr. 2024. PMID: 38759778 Free article.
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV. Reis LM, et al. Among authors: keppler noreuil km. Genes (Basel). 2023 Oct 17;14(10):1948. doi: 10.3390/genes14101948. Genes (Basel). 2023. PMID: 37895297 Free PMC article.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: keppler noreuil km. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332
Response to Hamosh et al.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: keppler noreuil km. Am J Hum Genet. 2021 Sep 2;108(9):1809-1810. doi: 10.1016/j.ajhg.2021.07.006. Am J Hum Genet. 2021. PMID: 34478656 Free PMC article. No abstract available.
88 results