Results 171 to 180 of about 65,204 (221)
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Rius R, Blakes AJ, Chen Y, De Jonghe J, Alvi JR, Amblard F, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Bernstein JA, Blanc P, Buchzik D, Calame DG, Cogne B, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Isidor B, Jacquemont M, Jeanne M, Korenke GC, Kotzaeridou U, Leventer RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O’Donnell-Luria A, O’Leary MC, Olivieri S, Parida A, Pehlivan D, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Thauvin C, Thevenon J, Uebergang E, Vincent-Delorme C, Wassmer E, Wheeler MT, Yilmaz Gulec E, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N. +73 moreeuropepmc +1 more source
