RE-BVS – Piemonte Repository

Sfoglia per AUTORE
OEGEMA R
Collezione AOU Città della Salute di Torino

Items : 2

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28.

2023
AOU Città della Salute di Torino

Sadikovic B; Mannens MMAM; Alders M; Hochstenbach R; Misra-Isrie M; Ferrero GB; Brusco A; Oegema R; Verbeek N; van der Smagt JJ; Volker-Touw CML; de Villemeur TB; Keren B; Terrone G; Mignot C; Brunetti-Pierri N; Levy MA; Vos N; Relator R; Lauffer P; Trajkova S; Haghshenas S; Rooney K; van der Laan L; van Haelst MM; Henneman P;

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. in Brain : a journal of neurology / Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.

2022
AOU Città della Salute di Torino

Galosi S; Edani BH; Martinelli S; Hansikova H; Eklund EA; Caputi C; Masuelli L; Corsten-Janssen N; Srour M; Oegema R; Bosch DGM; Ellis CA; Amlie-Wolf L; Accogli A; Atallah I; Averdunk L; Barañano KW; Bei R; Bagnasco I; Brusco A; Demarest S; Alaix AS; Di Bonaventura C; Distelmaier F; Elmslie F; Gan-Or Z; Good JM; Gripp K; Kamsteeg EJ; et alii...