Sfoglia per AUTORE
BABU D
Collezione AOU Novara

  

Items : 2

Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis. in Molecular genetics & genomic medicine / Mol Genet Genomic Med. 2022 Jan;10(1):e1793. doi: 10.1002/mgg3.1793. Epub 2021 Nov 23.

2022
AO Alessandria
AOU Città della Salute di Torino
AOU Novara

Fanelli A; Bellone S; Prodam F; Secco A; Follenzi A; Cucci A; Al Essa W; Monzani A; Babu D; Mellone S; Vannelli S; Giordano M;

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency. in European journal of human genetics : EJHG / Eur J Hum Genet. 2021 Jan;29(1):110-121. doi: 10.1038/s41431-020-0676-y. Epub 2020 Jul 9.

2021
AOU Città della Salute di Torino
AOU Novara

Giordano M; Prodam F; De Sanctis L; Stuppia L; Vinci G; Monzani A; Baffico AM; Bellone S; Grandone A; Essa WA; Corrado L; Mellone S; Fanelli A; Vannelli S; Babu D;