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251 results

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Page 1
Neurosurgery elucidates somatic mutations.
Maury EA, Walsh CA, Kahle KT. Maury EA, et al. Among authors: kahle kt. Science. 2023 Dec 22;382(6677):1360-1362. doi: 10.1126/science.adj2244. Epub 2023 Dec 21. Science. 2023. PMID: 38127765
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, Nelson-Williams C, Zhu G, Kong W, Huang AY, Stronge E, Phillips HW, Chhouk BH, Bizzotto S, Chen MH, Adikari TN, Ye Z, Witkowski T, Lai D, Lee N, Lokan J, Scheffer IE, Berkovic SF, Haider S, Hildebrand MS, Yang E, Gunel M, Lifton RP, Richardson RM, Blümcke I, Alexandrescu S, Huttner A, Heinzen EL, Zhu J, Poduri A, DeLanerolle N, Spencer DD, Lee EA, Walsh CA, Kahle KT. Khoshkhoo S, et al. Among authors: kahle kt. JAMA Neurol. 2023 Jun 1;80(6):578-587. doi: 10.1001/jamaneurol.2023.0473. JAMA Neurol. 2023. PMID: 37126322 Free PMC article.
Rethinking the cilia hypothesis of hydrocephalus.
Duy PQ, Greenberg ABW, Butler WE, Kahle KT. Duy PQ, et al. Among authors: kahle kt. Neurobiol Dis. 2022 Dec;175:105913. doi: 10.1016/j.nbd.2022.105913. Epub 2022 Oct 29. Neurobiol Dis. 2022. PMID: 36341771 Free article. Review.
Utility of cortical tissue analysis in normal pressure hydrocephalus.
Greenberg ABW, Mekbib KY, Mehta NH, Kiziltug E, Duy PQ, Smith HR, Junkkari A, Leinonen V, Hyman BT, Chan D, Curry WT Jr, Arnold SE, Barker Ii FG, Frosch MP, Kahle KT. Greenberg ABW, et al. Among authors: kahle kt. Cereb Cortex. 2024 Jan 31;34(2):bhae001. doi: 10.1093/cercor/bhae001. Cereb Cortex. 2024. PMID: 38275188
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P. Timberlake AT, et al. Among authors: kahle kt. Am J Hum Genet. 2023 May 4;110(5):846-862. doi: 10.1016/j.ajhg.2023.03.017. Epub 2023 Apr 21. Am J Hum Genet. 2023. PMID: 37086723 Free PMC article.
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, Burton J, Hoganson G, Petersen A, Gracie S, Granger L, Bartels E, Oppermann H, Kundishora A, Till M, Milleret-Pignot C, Dangerfield S, Viskochil D, Anderson KJ, Palculict TB, Schnur RE, Wentzensen IM, Tiller GE, Kahle KT, Kunz WS, Burkart S, Simons M, Sticht H, Abou Jamra R, Neuser S. Ahmad N, et al. Among authors: kahle kt. Pediatr Neurol. 2023 Nov;148:164-171. doi: 10.1016/j.pediatrneurol.2023.08.023. Epub 2023 Aug 24. Pediatr Neurol. 2023. PMID: 37734130
251 results