Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

by Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T.-T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., van Slegtenhorst, M., Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y.J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, M.A., Jamuar, S.S., Schöls, L., Reversade, B.
Published 2021

RENEB Inter-Laboratory Comparison 2021: Inter-Assay Comparison of Eight Dosimetry Assays

by M Port, J-F Barquinero, D Endesfelder, J Moquet, U Oestreicher, G Terzoudi, F Trompier, A Vral, Y Abe, L Ainsbury, L Alkebsi, S A Amundson, C Badie, A Baeyens, A S Balajee, K Balázs, S Barnard, C Bassinet, L A Beaton-Green, C Beinke, L Bobyk, P Brochard, K Brzoska, M Bucher, B Ciesielski, C Cuceu, M Discher, M C D Oca, I Domínguez, S Doucha-Senf, A Dumitrescu, P N Duy, F Finot, G Garty, S A Ghandhi, E Gregoire, Valerie Swee Ting Goh, I Güçlü, L Hadjiiska, R Hargitai, R Hristova, K Ishii, E Kis, M Juniewicz, R Kriehuber, J Lacombe, Y Lee, M Lopez Riego, K Lumniczky, T T Mai, N Maltar-Strmečki, M Marrale, J S Martinez, A Marciniak, N Maznyk, S W S McKeever, P K Meher, M Milanova, T Miura, O Monteiro Gil, A Montoro, M Moreno Domene, A Mrozik, R Nakayama, G O'Brien, D Oskamp, P Ostheim, J Pajic, N Pastor, C Patrono, M Pujol-Canadell, M J Prieto Rodriguez, M Repin, A Romanyukha, U Rößler, L Sabatier, A Sakai, H Scherthan, S Schüle, K M Seong, O Sevriukova, S Sholom, S Sommer, Y Suto, T Sypko, T Szatmári, M Takahashi-Sugai, K Takebayashi, A Testa, I Testard, A Tichy, S Triantopoulou, N Tsuyama, M Unverricht-Yeboah, M Valente, O Van Hoey, R C Wilkins, A Wojcik, M Wojewodzka, Lee Younghyun, D Zafiropoulos, M Abend
Published 2023