Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome.
AuteursVirgilio E, Tielens S, Bonfield G, Nian FS, Sawatani T, Vinci C, Govier M, Montaser H, Lartigue R, Arunagiri A, Liboz A, Natividade da Silva F, Lytrivi M, Papadopoulou T, Wakeling MN, Russ-Silsby J, Bowman P, Johnson MB, Laver TW, Piron A, Yi X, Fantuzzi F, Hendrickx S, Igoillo-Esteve M, Santacreu BJ, Suntharesan J, Ghildiyal R, Hegde DG, Shah NA, Acar S, Özkaya Dönmez B, Özkan B, Mohsin F, Talaat IM, Abbas MT, Abbas OS, Alghamdi HA, Kandemir N, Flanagan SE, Scharfmann R, Arvan P, Raoux M, Nguyen L, Hattersley AT, Cnop M, De Franco E
Minimum effective low dose of antithymocyte globulin in people aged 5-25 years with recent-onset stage 3 type 1 diabetes (MELD-ATG): a phase 2, multicentre, double-blind, randomised, placebo-controlled, adaptive dose-ranging trial.
AuteursMathieu C, Wych J, Hendriks AEJ, Van Ryckeghem L, Tree T, Chmura P, Möller C, Casteels K, Danne T, Reschke F, Šmigoc Schweiger D, Battelino T, Johannesen J, Rami-Merhar B, Pieber T, De Block C, Evans M, Hilbrands R, Bosi E, Willemsen RH, Basu S, Pulkkinen MA, Knip M, Cnop M, Nitsche A, Schulte AM, Niemöller E, Peakman M, Wilhelm-Benartzi C, Gillespie D, Overbergh L, Mander AP, Marcovecchio ML
Predicting cardiovascular events in allogeneic hematopoietic stem cell transplant recipients.
AuteursSibilia B, Gonçalves T, Chevillon F, Zhao LP, Benayoun M, Baudet M, Toupin S, Dhedin N, Boissel N, Singh M, Unger A, Sicre de Fontbrune F, Michonneau D, Xhaard A, Peffault de Latour R, Logeart D, Cohen Solal A, Azibani F, Dillinger JG, Henry P, Robin M, Pezel T
Performance measures for upper gastrointestinal endoscopy: a European Society of Gastrointestinal Endoscopy (ESGE) Quality Improvement Initiative - Update 2025.
AuteursAreia M, Esposito G, Leclercq P, Romańczyk M, Zessner-Spitzenberg J, Delgado Guillena PG, Monged A, Honrubia López R, Uchima H, Ruiz Ballesteros EJ, Panarese A, Reis de Oliveira LA, Afify S, Bisschops R, Ferlitsch M
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.
AuteursVan Vooren E, Van Den Broeck F, Mahieu Q, Geens E, Van Heetvelde M, De Bruyne M, Van de Sompele S, Uppal S, Poliakov E, Dhaenens CM, Gregory-Evans CY, Hoefsloot L, Gonzalez AI, Kohl S, Zuleger T, Demaret T, Tuupanen S, Ruys J, Van Os L, Platteau E, Jacob J, Vermeer S, Postelmans L, Dahan K, Maystadt I, Rasquin F, Thiadens AAHJ, Stephenson KAJ, Sheri N, Smirnov V, MacDonald IM, Gregory-Evans K, Redmond TM, De Zaeytijd J, Leroy BP, Bauwens M, De Baere E
