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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 4
2006 3
2007 4
2008 2
2009 3
2010 3
2011 1
2012 9
2013 20
2014 23
2015 18
2016 16
2017 19
2018 19
2019 23
2020 34
2021 31
2022 26
2023 23
2024 10

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244 results

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Page 1
Case Report: Long-Term Survival of a Patient with Cerebral Metastasized Ovarian Carcinoma Treated with a Personalized Peptide Vaccine and Anti-PD-1 Therapy.
Zelba H, Kyzirakos C, Kayser S, Shao B, Reinhardt A, Pieper N, Rabsteyn A, Döcker D, Armeanu-Ebinger S, Kloor M, Hadaschik D, Schulze M, Battke F, Golf A, Biskup S. Zelba H, et al. Among authors: biskup s. Vaccines (Basel). 2024 Apr 9;12(4):397. doi: 10.3390/vaccines12040397. Vaccines (Basel). 2024. PMID: 38675779 Free PMC article.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: biskup s. Eur J Hum Genet. 2024 Apr 2. doi: 10.1038/s41431-024-01600-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565639
First-in-class MKK4 inhibitors enhance liver regeneration and prevent liver failure.
Zwirner S, Abu Rmilah AA, Klotz S, Pfaffenroth B, Kloevekorn P, Moschopoulou AA, Schuette S, Haag M, Selig R, Li K, Zhou W, Nelson E, Poso A, Chen H, Amiot B, Jia Y, Minshew A, Michalak G, Cui W, Rist E, Longerich T, Jung B, Felgendreff P, Trompak O, Premsrirut PK, Gries K, Muerdter TE, Heinkele G, Wuestefeld T, Shapiro D, Weissbach M, Koenigsrainer A, Sipos B, Ab E, Zacarias MO, Theisgen S, Gruenheit N, Biskup S, Schwab M, Albrecht W, Laufer S, Nyberg S, Zender L. Zwirner S, et al. Among authors: biskup s. Cell. 2024 Mar 28;187(7):1666-1684.e26. doi: 10.1016/j.cell.2024.02.023. Epub 2024 Mar 14. Cell. 2024. PMID: 38490194 Free PMC article. Clinical Trial.
A second hotspot for pathogenic exon-skipping variants in CDC45.
Schoch K, Ruegg MSG, Fellows BJ, Cao J, Uhrig S, Einsele-Scholz S, Biskup S, Hawarden SRA, Salpietro V, Capra V; Undiagnosed Diseases Network; Brown CM, Accogli A, Shashi V, Bicknell LS. Schoch K, et al. Among authors: biskup s. Eur J Hum Genet. 2024 Mar 11. doi: 10.1038/s41431-024-01583-1. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38467731
The molecular interaction pattern of lenvatinib enables inhibition of wild-type or kinase-mutated FGFR2-driven cholangiocarcinoma.
Spahn S, Kleinhenz F, Shevchenko E, Stahl A, Rasen Y, Geisler C, Ruhm K, Klaumuenzer M, Kronenberger T, Laufer SA, Sundberg-Malek H, Bui KC, Horger M, Biskup S, Schulze-Osthoff K, Templin M, Malek NP, Poso A, Bitzer M. Spahn S, et al. Among authors: biskup s. Nat Commun. 2024 Feb 12;15(1):1287. doi: 10.1038/s41467-024-45247-6. Nat Commun. 2024. PMID: 38346946 Free PMC article.
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Hägele P, et al. Lancet Haematol. 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. Lancet Haematol. 2024. PMID: 38302222
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: biskup s. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S; ALPS Study Group. Rensing-Ehl A, et al. Among authors: biskup s. J Allergy Clin Immunol. 2024 Jan;153(1):297-308.e12. doi: 10.1016/j.jaci.2023.11.006. Epub 2023 Nov 17. J Allergy Clin Immunol. 2024. PMID: 37979702
244 results