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328 results

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Page 1
Functional genomics meets human genetics.
Ludwig KU, Spielmann M. Ludwig KU, et al. Among authors: spielmann m. Med Genet. 2022 Nov 29;34(4):259-260. doi: 10.1515/medgen-2022-2160. eCollection 2022 Dec. Med Genet. 2022. PMID: 38836090 Free PMC article. No abstract available.
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.
Dimartino P, Zadorozhna M, Yumiceba V, Basile A, Cani I, Melo US, Henck J, Breur M, Tonon C, Lodi R, Brusco A, Pippucci T, Koufi FD, Boschetti E, Ramazzotti G, Manzoli L, Ratti S, Pinto E Vairo F, Delatycki MB, Vaula G, Cortelli P, Bugiani M, Spielmann M, Giorgio E. Dimartino P, et al. Among authors: spielmann m. Ann Neurol. 2024 Nov;96(5):855-870. doi: 10.1002/ana.27038. Epub 2024 Jul 30. Ann Neurol. 2024. PMID: 39078102
A single-cell transcriptional timelapse of mouse embryonic development, from gastrula to pup.
Qiu C, Martin BK, Welsh IC, Daza RM, Le TM, Huang X, Nichols EK, Taylor ML, Fulton O, O'Day DR, Gomes AR, Ilcisin S, Srivatsan S, Deng X, Disteche CM, Noble WS, Hamazaki N, Moens CB, Kimelman D, Cao J, Schier AF, Spielmann M, Murray SA, Trapnell C, Shendure J. Qiu C, et al. Among authors: spielmann m. bioRxiv [Preprint]. 2023 Apr 5:2023.04.05.535726. doi: 10.1101/2023.04.05.535726. bioRxiv. 2023. Update in: Nature. 2024 Feb;626(8001):1084-1093. doi: 10.1038/s41586-024-07069-w PMID: 37066300 Free PMC article. Updated. Preprint.
Establishment and Molecular Characterization of Two Patient-Derived Pancreatic Ductal Adenocarcinoma Cell Lines as Preclinical Models for Treatment Response.
Braun R, Lapshyna O, Watzelt J, Drenckhan M, Künstner A, Färber B, Hael AAM, Bolm L, Honselmann KC, Konukiewitz B, Castven D, Spielmann M, Gorantla SP, Busch H, Marquardt JU, Keck T, Wellner UF, Ungefroren H. Braun R, et al. Among authors: spielmann m. Cells. 2023 Feb 11;12(4):587. doi: 10.3390/cells12040587. Cells. 2023. PMID: 36831254 Free PMC article.
Precision medicine in rare diseases: What is next?
Tesi B, Boileau C, Boycott KM, Canaud G, Caulfield M, Choukair D, Hill S, Spielmann M, Wedell A, Wirta V, Nordgren A, Lindstrand A. Tesi B, et al. Among authors: spielmann m. J Intern Med. 2023 Oct;294(4):397-412. doi: 10.1111/joim.13655. Epub 2023 Jun 1. J Intern Med. 2023. PMID: 37211972 Review.
328 results