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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Yap ZY, et al. Among authors: wagner a. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. Am J Hum Genet. 2021. PMID: 34800363 Free PMC article.
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, López-Otín C, Badens C, Lévy N. Navarro CL, et al. Among authors: wagner a. Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843403
Probing single electrons across 300-mm spin qubit wafers.
Neyens S, Zietz OK, Watson TF, Luthi F, Nethwewala A, George HC, Henry E, Islam M, Wagner AJ, Borjans F, Connors EJ, Corrigan J, Curry MJ, Keith D, Kotlyar R, Lampert LF, Mądzik MT, Millard K, Mohiyaddin FA, Pellerano S, Pillarisetty R, Ramsey M, Savytskyy R, Schaal S, Zheng G, Ziegler J, Bishop NC, Bojarski S, Roberts J, Clarke JS. Neyens S, et al. Among authors: wagner aj. Nature. 2024 May;629(8010):80-85. doi: 10.1038/s41586-024-07275-6. Epub 2024 May 1. Nature. 2024. PMID: 38693414 Free PMC article.
European clinical practice guidelines for the definition, diagnosis, and treatment of oligometastatic esophagogastric cancer (OMEC-4).
Kroese TE, Bronzwaer S, van Rossum PSN, Schoppman SF, Deseyne PRAJ, van Cutsem E, Haustermans K, Nafteux P, Thomas M, Obermannova R, Mortensen HR, Nordsmark M, Pfeiffer P, Elme A, Adenis A, Piessen G, Bruns CJ, Lordick F, Gockel I, Moehler M, Gani C, Liakakos T, Reynolds JV, Morganti AG, Rosati R, Castoro C, Cellini F, D'Ugo D, Roviello F, Bencivenga M, de Manzoni G, van Berge Henegouwen MI, Hulshoff MCCM, van Dieren J, Vollebergh M, van Sandick JW, Jeene P, Muijs C, Slingerland M, Voncken FEM, Hartgrink H, Creemers GJ, van der Sangen MJC, Nieuwenhuijzen GAP, Berbee M, Verheij M, Wijnhoven B, Beerepoot LV, Mohammad NH, Mook S, Ruurda JP, Kolodziejczyk P, Polkowski WP, Wyrwicz L, Alsina M, Tabernero J, Pera M, Kanonnikoff TF, Cervantes A, Nilsson M, Monig S, Wagner AD, Guckenberger M, Griffiths EA, Smyth E, Hanna GB, Markar S, Chaudry MA, Hawkins MA, Cheong E, van Laarhoven HWM, van Hillegersberg R; OMEC collaborators. Kroese TE, et al. Among authors: wagner ad. Eur J Cancer. 2024 Apr 16;204:114062. doi: 10.1016/j.ejca.2024.114062. Online ahead of print. Eur J Cancer. 2024. PMID: 38678762 Free article.
Experiences and impact of psychiatric inpatient admissions far away from home: a qualitative study with young people, parents/carers and healthcare professionals.
Roe J, Holland J, Burn AM, Hopkin E, Wild L, Fisher M, Nazir S, Ford T, Dubicka B, James A, Tuomainen H, Fung N, Horton K, Wagner AP, Morriss R, Sayal K. Roe J, et al. Among authors: wagner ap. BMJ Ment Health. 2024 Apr 25;27(1):e300991. doi: 10.1136/bmjment-2024-300991. BMJ Ment Health. 2024. PMID: 38670574 Free PMC article.
5,082 results