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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, Zampo… See abstract for full author list ➔ Helbig KL, et al. 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.
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, Zampo… See abstract for full author list ➔ Helbig KL, et al. Am J Hum Genet. 2019 Mar 7;104(3):562. doi: 10.1016/j.ajhg.2019.02.015. Am J Hum Genet. 2019. PMID: 30849329 Free PMC article. No abstract available.
Australian link worker social prescribing programs: An integrative review.
Baker JR, Bissett M, Freak-Poli R, Dingle GA, Zurynski Y, Astell-Burt T, Brymer E, Prassos T, Thomas T, Tognarini C, Aggar C. Baker JR, et al. PLoS One. 2024 Nov 11;19(11):e0309783. doi: 10.1371/journal.pone.0309783. eCollection 2024. PLoS One. 2024. PMID: 39527513 Free PMC article. Review.
Enhanced mucosal SARS-CoV-2 immunity after heterologous intramuscular mRNA prime/intranasal protein boost vaccination with a combination adjuvant.
Laghlali G, Wiest MJ, Karadag D, Warang P, O'Konek JJ, Chang LA, Park SC, Yan V, Farazuddin M, Janczak KW, García-Sastre A, Baker JR Jr, Wong PT, Schotsaert M. Laghlali G, et al. Among authors: baker jr jr. Mol Ther. 2024 Dec 4;32(12):4448-4466. doi: 10.1016/j.ymthe.2024.10.016. Epub 2024 Oct 28. Mol Ther. 2024. PMID: 39489918 Free PMC article.
Building common understanding: seeking consensus and defining social prescribing across contexts - a collective commentary on a Delphi study.
Muhl C, Mulligan K, Giurca BC, Polley MJ, Bloch G, Nowak DA, Osborn-Forde C, Hsiung S, Lee KH, Herrmann WJ, Baker JR, Stokes-Lampard DHJ, Everington SS, Dixon M, Wachsmuth I, Figueiredo C, Skjerning HT, Rojatz D, Chen YD, Heijnders ML, Wallace C, Howarth M, Watanabe D, Bertotti M, Jansson AH, Althini S, Holzinger F, Dooler DG, Brand S, Anfilogoff TJ, Fancourt D, Nelson MLA, Tierney S, Leitch A, Nam HK, Card KG, Hayes D, Slade S, Essam MA, Palmer GA, Welch VA, Robinson D, Hilsgen L, Taylor N, Nielsen RØ, Vidovic D, McDaid EM, Hoffmeister LV, Bonehill J, Siegel A, Bártová A, Acurio-Páez D, Mendive JM, Husk K. Muhl C, et al. Among authors: baker jr. BMC Health Serv Res. 2024 Oct 24;24(1):1280. doi: 10.1186/s12913-024-11603-x. BMC Health Serv Res. 2024. PMID: 39449029 Free PMC article.
1,664 results