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

Year Number of Results
1970 1
1979 1
1980 1
1981 1
1982 3
1983 1
1986 1
1992 2
1993 3
1995 1
1997 2
2000 3
2001 1
2002 2
2003 3
2004 1
2005 1
2007 5
2008 4
2009 2
2010 11
2011 31
2012 22
2013 28
2014 55
2015 60
2016 37
2017 40
2018 18
2019 12
2020 8
2021 14
2022 13
2023 11
2024 1

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361 results

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Page 1
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Faundes V, et al. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
An Investigation of Hiccups.
Squires M, Sribnick EA. Squires M, et al. Pediatr Neurol. 2020 May;106:70-71. doi: 10.1016/j.pediatrneurol.2019.12.012. Epub 2020 Feb 4. Pediatr Neurol. 2020. PMID: 32139168 No abstract available.
Challenges of surgical management of intrahepatic cholangiocarcinoma.
Squires MH, Cloyd JM, Dillhoff M, Schmidt C, Pawlik TM. Squires MH, et al. Expert Rev Gastroenterol Hepatol. 2018 Jul;12(7):671-681. doi: 10.1080/17474124.2018.1489229. Epub 2018 Jun 27. Expert Rev Gastroenterol Hepatol. 2018. PMID: 29911912 Review.
Laboratory-Developed Tests: A Legislative and Regulatory Review.
Genzen JR, Mohlman JS, Lynch JL, Squires MW, Weiss RL. Genzen JR, et al. Among authors: squires mw. Clin Chem. 2017 Oct;63(10):1575-1584. doi: 10.1373/clinchem.2017.275164. Epub 2017 Jul 7. Clin Chem. 2017. PMID: 28687634 Review.
Swallowing dysfunction after minimally invasive oesophagectomy.
Mann D, Benbow JH, Gower NL, Trufan S, Watson M, Colcord ME, Squires MH, Raj VS, Hill JS, Salo JC. Mann D, et al. Among authors: squires mh. BMJ Support Palliat Care. 2022 Jun;12(2):235-242. doi: 10.1136/bmjspcare-2020-002626. Epub 2020 Oct 22. BMJ Support Palliat Care. 2022. PMID: 33093039
Update on current problems in colorectal liver metastasis.
Chakedis J, Squires MH, Beal EW, Hughes T, Lewis H, Paredes A, Al-Mansour M, Sun S, Cloyd JM, Pawlik TM. Chakedis J, et al. Among authors: squires mh. Curr Probl Surg. 2017 Nov;54(11):554-602. doi: 10.1067/j.cpsurg.2017.10.002. Epub 2017 Oct 27. Curr Probl Surg. 2017. PMID: 29198365 Review. No abstract available.
361 results