Evan Gouy
@evangouy.bsky.social
Silvestre Cuinat at #eshg2025 : wonderful presentation ! @hospicescivilslyon.bsky.social @hcl-recherche.bsky.social
Silvestre Cuinat #ESHG2025
65 new RNU4ATAC-related patients
MOPD1, Roifman & Lowry–Wood syndrome classic, but Usher-like presentation seen & autoimmune (44%)
Normal OFC (10%), height (20%), neurodevelopment (15%), no sign pathognomonic, no sign universal
(no preprint)
65 new RNU4ATAC-related patients
MOPD1, Roifman & Lowry–Wood syndrome classic, but Usher-like presentation seen & autoimmune (44%)
Normal OFC (10%), height (20%), neurodevelopment (15%), no sign pathognomonic, no sign universal
(no preprint)
May 25, 2025 at 2:04 PM
Silvestre Cuinat at #eshg2025 : wonderful presentation ! @hospicescivilslyon.bsky.social @hcl-recherche.bsky.social
Wonderful career with an impressive imvolvment in éducation !
Attend the ELPAG Award lecture at 14:15 at #eshg2025 with Sylvia Metcalfe who played a leading role in setting up the Genioz project and find out about her research that led to the ELPAG Award.
May 24, 2025 at 12:33 PM
Wonderful career with an impressive imvolvment in éducation !