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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: leeuwen l. Am J Hum Genet. 2025 Oct 18:S0002-9297(25)00401-X. doi: 10.1016/j.ajhg.2025.10.010. Online ahead of print. Am J Hum Genet. 2025. PMID: 41110445 No abstract available.
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M, Dekker J, Ferraro F, Kasteleijn E, Verschuren M, Kroon E, Douben HCW, Vogt I, van Unen L, Hoogeveen-Westerveld M, Elfferich P, Schot R, Calandrini C, Korpershoek E, Sleutels F, Brüggenwirth HBR, Hollink IR, Meerstein-Kessel L, Hoefsloot LH, van Slegtenhorst M, Wilke M, Weerts MJA, van Minkelen R, Wagner A, Bouman A, van Paassen BW, Verheijen-Mancini GM, van de Laar IMBH, Kievit AJA, Verhagen JMA, Stuurman KE, Donker Kaat L, van Dooren MF, Wessels MW, Oldenburg RA, Zeidler S, van Dijk T, Barakat TS, Verhoeven VJM, van Bever Y, van Ierland Y, Bannink N, van Koningsbruggen S, Lakeman P, Leeuwen L, Verbeek NE, Sinnema M, Heijligers M, van Asperen CJ, Saris JJ, Nellist M, van Ham TJ. Drost M, et al. Among authors: leeuwen l. HGG Adv. 2025 Sep 22;7(1):100521. doi: 10.1016/j.xhgg.2025.100521. Online ahead of print. HGG Adv. 2025. PMID: 40988334 Free article.
Normothermic Kidney Perfusion: Current Status and Future Perspectives.
Franchin B, van Leeuwen L, Holzner ML, Chun N, Furian L, Cravedi P. Franchin B, et al. Among authors: van leeuwen l. Kidney Int Rep. 2025 Jun 26;10(9):2943-2952. doi: 10.1016/j.ekir.2025.06.041. eCollection 2025 Sep. Kidney Int Rep. 2025. PMID: 40980641 Free PMC article. Review.
Safety and effectiveness of the early-onset sepsis calculator to reduce antibiotic exposure in at-risk newborns: a cluster-randomised controlled trial.
van der Weijden BM, Janssen SWCM, van der Weide MC, Cornelisse-van Vugt RJPM, Ten Tusscher GW, Lutterman CAM, Kamps AWA, Lorente Flores CM, Hol J, van Laerhoven H, Rijpert M, Oeij NA, Schiering IAM, Obermann-Borst SA, Visser DH, van Leeuwen LM, Kornelisse RF, van Rossum AMC, Bijlsma MW, Plötz FB, Achten NB. van der Weijden BM, et al. Among authors: van leeuwen lm. EClinicalMedicine. 2025 Aug 12;87:103419. doi: 10.1016/j.eclinm.2025.103419. eCollection 2025 Sep. EClinicalMedicine. 2025. PMID: 40831464 Free PMC article.
163 results