RE-BVS – Piemonte Repository

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

Items : 5

Anatomical and functional changes of the fetal adrenal gland in intrauterine growth restriction. in International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics / Int J Gynaecol Obstet. 2024 Sep;166(3):1100-1107. doi: 10.1002/ijgo.15491. Epub 2024 Mar 26.

2024
AOU Città della Salute di Torino

Gaglioti P; Giuffrida D; Nuzzo AM; Canu L; Pace C; Rolfo A; Martinelli S; Todros T;

Comparison of "IN-REC-SUR-E" and LISA in preterm neonates with respiratory distress syndrome: a randomized controlled trial (IN-REC-LISA trial). in Trials / Trials. 2024 Jul 2;25(1):433. doi: 10.1186/s13063-024-08240-4.

2024
AOU Alessandria
AOU Città della Salute di Torino
AOU Novara

Tulino V; Valenzano L; Trevisanuto D; Tuling G; Tomasini B; Tormena F; Travan L; Tirantello M; Testa A; Tina G; Stella M; Termini D; Terrin G; Spaggiari E; Staffler A; Sindico P; Solinas A; Sorrentino E; Mantelli SS; Sepporta V; Schettini F; Scorrano A; Scapillati E; Sauna A; Salvo V; Sanfilippo C; Sannia A; Saporito A; Rulli I; et alii...

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. in Brain : a journal of neurology / Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.

2022
AOU Città della Salute di Torino

Galosi S; Edani BH; Martinelli S; Hansikova H; Eklund EA; Caputi C; Masuelli L; Corsten-Janssen N; Srour M; Oegema R; Bosch DGM; Ellis CA; Amlie-Wolf L; Accogli A; Atallah I; Averdunk L; Barañano KW; Bei R; Bagnasco I; Brusco A; Demarest S; Alaix AS; Di Bonaventura C; Distelmaier F; Elmslie F; Gan-Or Z; Good JM; Gripp K; Kamsteeg EJ; et alii...

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. in Journal of medical genetics / J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15.

2022
AOU Città della Salute di Torino

Ferrero GB; Buxbaum JD; Dimartino P; De Rubeis S; Colson C; Ranguin K; Giuffrè M; Antona V; Radio FC; Giorgio E; Carli D; Prota V; Pippucci T; Bruselles A; Ciolfi A; Arauz-Garofalo G; Vilaseca M; Gay M; Andreoli C; Sanchiz-Calvo M; Pavinato L; Villamor-Payà M; Tartaglia M; Martinelli S; Stracker TH; Brusco A;

Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. in Journal of medical genetics / J Med Genet. 2021 Aug;58(8):526-533. doi: 10.1136/jmedgenet-2020-106833. Epub 2020 Aug 3.

2021
AOU Città della Salute di Torino

Novelli A; Dallapiccola B; Salviati L; Gai G; Grosso E; Cassina M; Zuccarello D; Pannone L; Slep KC; Agolini E; Morbidoni V; Martinelli S; Trevisson E;