RE-BVS – Piemonte Repository

Sfoglia per AUTORE
POTOCKI L
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...

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Mar;185(3):836-840. doi: 10.1002/ajmg.a.62066. Epub 2021 Jan 14.

2021
AOU Città della Salute di Torino

Brusco A; Naretto VG; Di Gregorio E; Potocki L; Keswani S; Machol K; Mackay LP; Gofin Y; Hernandez-Garcia A; Scott DA;