RE-BVS – Piemonte Repository

Sfoglia per AUTORE
MUNDLOS S
Collezione AOU Città della Salute di Torino

Items : 3

Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. in Nature communications / Nat Commun. 2023 Oct 9;14(1):6301. doi: 10.1038/s41467-023-42123-7.

2023
AOU Città della Salute di Torino

Melo US; Jatzlau J; Prada-Medina CA; Flex E; Hartmann S; Ali S; Schöpflin R; Bernardini L; Ciolfi A; Moeinzadeh MH; Klever MK; Altay A; Vallecillo-García P; Carpentieri G; Delledonne M; Ort MJ; Schwestka M; Ferrero GB; Tartaglia M; Brusco A; Gossen M; Strunk D; Geißler S; Mundlos S; Stricker S; Knaus P; Giorgio E; Spielmann M;

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. in Nature communications / Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8.

2023
AOU Città della Salute di Torino

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. in American journal of human genetics / Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001.

2021
AOU Città della Salute di Torino

Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Han?árová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; et alii...