RE-BVS – Piemonte Repository

Sfoglia per AUTORE
LYONS MJ
Collezione AOU Città della Salute di Torino

Items : 3

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. in Genome medicine / Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y.

2024
AOU Città della Salute di Torino

Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Abou Jamra R; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Smeland MF; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; et alii...

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. in medRxiv : the preprint server for health sciences / medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100.

2024
AOU Città della Salute di Torino

Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Jamra RA; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Falkenberg Smeland M; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; et alii...

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. in American journal of medical genetics. Part A / Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14.

2023
AOU Città della Salute di Torino

Wojcik MH; Srivastava S; Agrawal PB; Balci TB; Callewaert B; Calvo PL; Carli D; Caudle M; Colaiacovo S; Cross L; Demetriou K; Drazba K; Dutra-Clarke M; Edwards M; Genetti CA; Grange DK; Hickey SE; Isidor B; Küry S; Lachman HM; Lavillaureix A; Lyons MJ; Marcelis C; Marco EJ; Martinez-Agosto JA; Nowak C; Pizzol A; Planes M; Prijoles EJ; et alii...