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

Year Number of Results
1973 1
1975 2
1976 1
1978 1
1980 2
1981 1
1982 2
1983 2
1984 2
1985 1
2002 1
2003 2
2007 3
2008 3
2009 1
2010 3
2011 7
2012 7
2013 1
2014 4
2015 5
2016 6
2017 7
2018 8
2019 8
2020 7
2021 8
2022 11
2023 6
2024 3

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99 results

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Page 1
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL, Lauerer RJ, Bahr JC, Souza IA, Myers CT, Uysal B, Schwarz N, Gandini MA, Huang S, Keren B, Mignot C, Afenjar A, Billette de Villemeur T, Héron D, Nava C, Valence S, Buratti J, Fagerberg CR, Soerensen KP, Kibaek M, Kamsteeg EJ, Koolen DA, Gunning B, Schelhaas HJ, Kruer MC, Fox J, Bakhtiari S, Jarrar R, Padilla-Lopez S, Lindstrom K, Jin SC, Zeng X, Bilguvar K, Papavasileiou A, Xing Q, Zhu C, Boysen K, Vairo F, Lanpher BC, Klee EW, Tillema JM, Payne ET, Cousin MA, Kruisselbrink TM, Wick MJ, Baker J, Haan E, Smith N, Sadeghpour A, Davis EE, Katsanis N; Task Force for Neonatal Genomics; Corbett MA, MacLennan AH, Gecz J, Biskup S, Goldmann E, Rodan LH, Kichula E, Segal E, Jackson KE, Asamoah A, Dimmock D, McCarrier J, Botto LD, Filloux F, Tvrdik T, Cascino GD, Klingerman S, Neumann C, Wang R, Jacobsen JC, Nolan MA, Snell RG, Lehnert K, Sadleir LG, Anderlid BM, Kvarnung M, Guerrini R, Friez MJ, Lyons MJ, Leonhard J, Kringlen G, Casas K, El Achkar CM, Smith LA, Rotenberg A, Poduri A, Sanchis-Juan A, Carss KJ, Rankin J, Zeman A, Raymond FL, Blyth M, Kerr B, Ruiz K, Urquhart J, Hughes I, Banka S; Deciphering Developmental Disorders Study; Hedrich UBS, Scheffer IE, Helbig I… See abstract for full author list ➔ Helbig KL, et al. Among authors: jacobsen jc. Am J Hum Genet. 2018 Nov 1;103(5):666-678. doi: 10.1016/j.ajhg.2018.09.006. Epub 2018 Oct 18. Am J Hum Genet. 2018. PMID: 30343943 Free PMC article.
DNR, DNI, and DNO?
Cauley CE, El-Jawahri AR, Jacobsen JC, Udelsman BV, Jackson VA, Temel JS, Qadan M. Cauley CE, et al. Among authors: jacobsen jc. J Palliat Med. 2020 Jun;23(6):829-831. doi: 10.1089/jpm.2019.0486. Epub 2019 Nov 12. J Palliat Med. 2020. PMID: 31718398
Influence of connexin45 on renal autoregulation.
Møller S, Jacobsen JCB, Braunstein TH, Holstein-Rathlou NH, Sorensen CM. Møller S, et al. Among authors: jacobsen jcb. Am J Physiol Renal Physiol. 2020 Mar 1;318(3):F732-F740. doi: 10.1152/ajprenal.00185.2019. Epub 2020 Jan 27. Am J Physiol Renal Physiol. 2020. PMID: 31984796 Free article.
(Don't) Leave Me Alone: Attachment in Palliative Care.
Shalev D, Jacobsen JC, Rosenberg LB, Brenner KO, Seaton M, Jackson VA, Greer JA. Shalev D, et al. Among authors: jacobsen jc. J Palliat Med. 2022 Jan;25(1):9-14. doi: 10.1089/jpm.2021.0491. J Palliat Med. 2022. PMID: 34978911 Free PMC article.
99 results