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2004 1
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2012 1
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68 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: lehnert k. 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.
The (apparent) antibody paradox in COVID-19.
Ameratunga R, Woon ST, Lea E, Steele R, Lehnert K, Leung E, Brooks AES. Ameratunga R, et al. Among authors: lehnert k. Expert Rev Clin Immunol. 2022 Apr;18(4):335-345. doi: 10.1080/1744666X.2022.2044797. Epub 2022 Mar 10. Expert Rev Clin Immunol. 2022. PMID: 35184669 Free PMC article.
The Rapidly Expanding Genetic Spectrum of Common Variable Immunodeficiency-Like Disorders.
Ameratunga R, Edwards ESJ, Lehnert K, Leung E, Woon ST, Lea E, Allan C, Chan L, Steele R, Longhurst H, Bryant VL. Ameratunga R, et al. Among authors: lehnert k. J Allergy Clin Immunol Pract. 2023 Jun;11(6):1646-1664. doi: 10.1016/j.jaip.2023.01.048. Epub 2023 Feb 14. J Allergy Clin Immunol Pract. 2023. PMID: 36796510 Review.
68 results