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Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Lemke JR, et al. Among authors: lorenz r. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21. Epilepsia. 2012. PMID: 22612257 Free article.
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT. Nabais Sá MJ, et al. Among authors: lorenz r. Genet Med. 2019 Sep;21(9):2059-2069. doi: 10.1038/s41436-019-0473-6. Epub 2019 Mar 29. Genet Med. 2019. PMID: 30923367 Free article.
Modified Nucleotides and RNA Structure Prediction.
Varenyk Y, Lorenz R. Varenyk Y, et al. Among authors: lorenz r. Methods Mol Biol. 2024;2726:169-207. doi: 10.1007/978-1-0716-3519-3_8. Methods Mol Biol. 2024. PMID: 38780732
RNA Secondary Structure Thermodynamics.
Lorenz R. Lorenz R. Methods Mol Biol. 2024;2726:45-83. doi: 10.1007/978-1-0716-3519-3_3. Methods Mol Biol. 2024. PMID: 38780727
Radiation-induced alteration of apatite on the surface of Mars: first in situ observations with SuperCam Raman onboard Perseverance.
Clavé E, Beyssac O, Bernard S, Royer C, Lopez-Reyes G, Schröder S, Rammelkamp K, Forni O, Fau A, Cousin A, Manrique JA, Ollila A, Madariaga JM, Aramendia J, Sharma SK, Fornaro T, Maurice S, Wiens RC; SuperCam Science team. Clavé E, et al. Sci Rep. 2024 May 17;14(1):11284. doi: 10.1038/s41598-024-61494-5. Sci Rep. 2024. PMID: 38760365 Free PMC article.
Laser Versus Cold Steel for Endoscopic Management of Subglottic Stenosis.
Liang KY, Miller KM, Syed F, Li H, Tierney WS, Nelson RC, Benninger MS, Bryson PC, Lorenz RR. Liang KY, et al. Among authors: lorenz rr. Otolaryngol Head Neck Surg. 2024 Mar 21. doi: 10.1002/ohn.727. Online ahead of print. Otolaryngol Head Neck Surg. 2024. PMID: 38509830
1,186 results