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

Year Number of Results
2002 1
2003 2
2005 1
2007 2
2008 3
2009 1
2010 2
2011 2
2012 2
2013 1
2014 2
2015 4
2016 3
2017 3
2018 4
2019 4
2021 1
2022 2
2023 5
2024 1

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40 results

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Page 1
Phenotype delineation of ZNF462 related syndrome.
Kruszka P, Hu T, Hong S, Signer R, Cogné B, Isidor B, Mazzola SE, Giltay JC, van Gassen KLI, England EM, Pais L, Ockeloen CW, Sanchez-Lara PA, Kinning E, Adams DJ, Treat K, Torres-Martinez W, Bedeschi MF, Iascone M, Blaney S, Bell O, Tan TY, Delrue MA, Jurgens J, Barry BJ, Engle EC, Savage SK, Fleischer N, Martinez-Agosto JA, Boycott K, Zackai EH, Muenke M. Kruszka P, et al. Among authors: kinning e. Am J Med Genet A. 2019 Oct;179(10):2075-2082. doi: 10.1002/ajmg.a.61306. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361404 Free PMC article.
Fetal hydrops caused by a novel pathogenic MECOM variant.
Wall E, Forsyth J, Kinning E, Marton T. Wall E, et al. Among authors: kinning e. Prenat Diagn. 2023 Jun;43(6):717-720. doi: 10.1002/pd.6353. Epub 2023 May 17. Prenat Diagn. 2023. PMID: 37160698
Pathogenicity and selective constraint on variation near splice sites.
Lord J, Gallone G, Short PJ, McRae JF, Ironfield H, Wynn EH, Gerety SS, He L, Kerr B, Johnson DS, McCann E, Kinning E, Flinter F, Temple IK, Clayton-Smith J, McEntagart M, Lynch SA, Joss S, Douzgou S, Dabir T, Clowes V, McConnell VPM, Lam W, Wright CF, FitzPatrick DR, Firth HV, Barrett JC, Hurles ME; Deciphering Developmental Disorders study. Lord J, et al. Among authors: kinning e. Genome Res. 2019 Feb;29(2):159-170. doi: 10.1101/gr.238444.118. Epub 2018 Dec 26. Genome Res. 2019. PMID: 30587507 Free PMC article.
Germline FH mutations presenting with pheochromocytoma.
Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E, Morrison PJ, Frezza C, Maher ER. Clark GR, et al. Among authors: kinning e. J Clin Endocrinol Metab. 2014 Oct;99(10):E2046-50. doi: 10.1210/jc.2014-1659. Epub 2014 Jul 8. J Clin Endocrinol Metab. 2014. PMID: 25004247
Progressive osseous heteroplasia: A case report with an unexpected trigger.
Boncompagni A, Lucas-Herald AK, Beattie P, McDevitt H, Iughetti L, Constantinou P, Kinning E, Ahmed SF, Mason A. Boncompagni A, et al. Among authors: kinning e. Bone Rep. 2023 Feb 23;18:101665. doi: 10.1016/j.bonr.2023.101665. eCollection 2023 Jun. Bone Rep. 2023. PMID: 36936194 Free PMC article.
Novel features in auriculo-condylar syndrome.
McGowan R, Murday V, Kinning E, Garcia S, Koppel D, Whiteford M. McGowan R, et al. Among authors: kinning e. Clin Dysmorphol. 2011 Jan;20(1):1-10. doi: 10.1097/MCD.0b013e32833e56f5. Clin Dysmorphol. 2011. PMID: 20733479
40 results