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Page 1
Did you mean altmuller J OR altmuller j (360 results)?
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H. Koko M, et al. Among authors: altmuller j. Eur J Hum Genet. 2024 Feb 5. doi: 10.1038/s41431-024-01541-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38316952
XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes.
Chatzinikolaou G, Stratigi K, Siametis A, Goulielmaki E, Akalestou-Clocher A, Tsamardinos I, Topalis P, Austin C, Bouwman BAM, Crosetto N, Altmüller J, Garinis GA. Chatzinikolaou G, et al. Among authors: altmuller j. Sci Adv. 2023 Nov 10;9(45):eadi2095. doi: 10.1126/sciadv.adi2095. Epub 2023 Nov 8. Sci Adv. 2023. PMID: 37939182 Free PMC article.
Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver.
Nikopoulou C, Kleinenkuhnen N, Parekh S, Sandoval T, Ziegenhain C, Schneider F, Giavalisco P, Donahue KF, Vesting AJ, Kirchner M, Bozukova M, Vossen C, Altmüller J, Wunderlich T, Sandberg R, Kondylis V, Tresch A, Tessarz P. Nikopoulou C, et al. Among authors: altmuller j. Nat Aging. 2023 Nov;3(11):1430-1445. doi: 10.1038/s43587-023-00513-y. Epub 2023 Nov 9. Nat Aging. 2023. PMID: 37946043 Free PMC article.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Among authors: altmuller j. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I, Lokau J, Kespohl B, Malik NA, Baig SM, Hartig R, Behme D, Schwab R, Altmüller J, Jameel M, Mucha S, Thiele H, Tariq M, Nürnberg P, Erdmann J, Garbers C. Ahmad I, et al. Among authors: altmuller j. Sci Rep. 2023 Aug 18;13(1):13479. doi: 10.1038/s41598-023-39466-y. Sci Rep. 2023. PMID: 37596289 Free PMC article.
Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.
Zhu M, Metzen F, Hopkinson M, Betz J, Heilig J, Sodhi J, Imhof T, Niehoff A, Birk DE, Izu Y, Krüger M, Pitsillides AA, Altmüller J, van Osch GJVM, Straub V, Schreiber G, Paulsson M, Koch M, Brachvogel B. Zhu M, et al. Among authors: altmuller j. iScience. 2023 Jun 28;26(7):107225. doi: 10.1016/j.isci.2023.107225. eCollection 2023 Jul 21. iScience. 2023. PMID: 37485359 Free PMC article.
Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia.
Jiang Q, Stachelscheid J, Bloehdorn J, Pacholewska A, Aszyk C, Grotenhuijs F, Müller T, Onder O, Wagle P, Herling CD, Kleppe M, Wang Z, Coombes KR, Robrecht S, Dalvi PS, Plosnita B, Mayer P, Abruzzo LV, Altmüller J, Gathof B, Persigehl T, Fischer K, Jebaraj B, Rienhoff HY, Ecker R, Zhao Y, Bruns CJ, Stilgenbauer S, Elenitoba-Johnson K, Hallek M, Schweiger MR, Odenthal M, Vasyutina E, Herling M. Jiang Q, et al. Among authors: altmuller j. Blood. 2023 Jul 6;142(1):44-61. doi: 10.1182/blood.2022017230. Blood. 2023. PMID: 37023372
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch S, Haslinger D, Lindlar S, Thiele H, Bernsen N, Zahnert F, Reif PS, Balcik Y, Au PYB, Josephson CB, Altmüller J, Strzelczyk A, Knake S, Rosenow F, Chiocchetti A, Klein KM. von Brauchitsch S, et al. Among authors: altmuller j. Epilepsia Open. 2023 Jun;8(2):497-508. doi: 10.1002/epi4.12719. Epub 2023 Mar 17. Epilepsia Open. 2023. PMID: 36896643 Free PMC article.
383 results