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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
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.
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: lauerer rj.
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.
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Voltage-gated calcium channels in genetic epilepsies.
Lauerer RJ, Lerche H.
Lauerer RJ, et al.
J Neurochem. 2023 Oct 11. doi: 10.1111/jnc.15983. Online ahead of print.
J Neurochem. 2023.
PMID: 37822150
Review.
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Rapid Diagnosis of Central Nervous System Scedosporiosis by Specific Quantitative Polymerase Chain Reaction Applied to Formalin-Fixed, Paraffin-Embedded Tissue.
Lauerer RJ, Rosenow E, Beschorner R, Hempel JM, Naros G, Hofmann A, Berger K, Sartor-Pfeiffer J, Mengel A, Ziemann U, Rickerts V, Feil K.
Lauerer RJ, et al.
J Fungi (Basel). 2021 Dec 27;8(1):19. doi: 10.3390/jof8010019.
J Fungi (Basel). 2021.
PMID: 35049958
Free PMC article.
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"Mein Urin ist lila - was ist denn da los?".
Lauerer RJ, Wilpert J.
Lauerer RJ, et al.
MMW Fortschr Med. 2021 Mar;163(4):9. doi: 10.1007/s15006-021-9615-2.
MMW Fortschr Med. 2021.
PMID: 33638819
German.
No abstract available.
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