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Year Number of Results
2002 2
2003 2
2004 1
2005 1
2009 1
2010 1
2012 2
2013 1
2014 4
2015 5
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2017 8
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2019 10
2020 5
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2023 6
2024 4

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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: snell rg. 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.
Development of SpCas9-expressing bovine mammary epithelial cell lines.
Trevarton AJ, Mears ER, Moody J, Lopdell TJ, Chometon TQ, Taylor JA, Wang CJ, Littlejohn MD, Snell RG. Trevarton AJ, et al. Among authors: snell rg. In Vitro Cell Dev Biol Anim. 2023 Mar;59(3):163-165. doi: 10.1007/s11626-023-00756-4. Epub 2023 Mar 17. In Vitro Cell Dev Biol Anim. 2023. PMID: 36930414 No abstract available.
Chemical neuroanatomy of the substantia nigra in the ovine brain.
Murray SJ, Black BL, Reid SJ, Rudiger SR, Simon Bawden C, Snell RG, Waldvogel HJ, Faull RLM. Murray SJ, et al. Among authors: snell rg. J Chem Neuroanat. 2019 Apr;97:43-56. doi: 10.1016/j.jchemneu.2019.01.007. Epub 2019 Jan 18. J Chem Neuroanat. 2019. PMID: 30664938
70 results