Sfoglia per AUTORE
IASCONE M
Collezione AOU Città della Salute di Torino

  

Items : 5

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. in Proceedings of the National Academy of Sciences of the United States of America / Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2317601121. doi: 10.1073/pnas.2317601121. Epub 2024 M
2024
AOU Città della Salute di Torino

Pisan E; De Luca C; Brancati F; Sanchez Russo R; Li D; Bhoj E; Wenger T; Marwaha A; Johnson N; Beneteau C; Brischoux-Boucher E; Houge G; Paulsen J; Hammer TB; Ek J; Schweitzer D; Russell BE; Dutra-Clarke M; Nelson S; Douine ED; Corona RI; Dudding T; Thomson H; Low K; Belnap N; Iascone M; Priolo M; Carli D; Mussa A; et alii...

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum. in Journal of medical genetics / J Med Genet. 2023 Sep;60(9):866-873. doi: 10.1136/jmg-2022-109018. Epub 2023 Mar 28.
2023
AOU Città della Salute di Torino

D'Oria P; Spaccini L; Iascone M; Brusco A; Casalis Cavalchini GC; Giorgio E; McEntagart M; Homfray T; Jokela M; Lillback V; Di Feo MF; Savarese M; Udd B;

Rock around DYRK1A: Ethnic diversity, clinical challenges. in American journal of medical genetics. Part A / Am J Med Genet A. 2023 May;191(5):1459-1464. doi: 10.1002/ajmg.a.63140. Epub 2023 Feb 11.
2023
AOU Città della Salute di Torino

Marchetti D; Pezzoli L; Gabbiadini S; Guuva C; Marzaroli M; Cereda A; Scatigno A; Alfei E; Moroni A; Pezzani L; Spaccini L; Iascone M;

Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group. in Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver / Dig Liver Dis. 2022 Jan;54(1):40-53. doi: 10.1016/j.dld.2021.09.011. Epub 2021 Oct 20.
2022
AOU Città della Salute di Torino

Pinon M; Paolella G; Nuti F; Nebbia G; Monti L; Mosca F; Matarazzo L; Mandato C; Maggiore G; Iorio R; Indolfi G; Iascone M; Grimaldi C; Gaio P; Fusaro F; Francalanci P; Fuoti M; Ferrari F; Vici CD; Di Giorgio A; Di Dato F; De Ville De Goyet J; Degrassi I; D'Antiga L; Clemente MG; Candusso M; Cananzi M; Calvo PL; Boroni G; et alii...

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. in Brain : a journal of neurology / Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124.
2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Rehm HL; Casasnovas C; Adams DR; de Souza P; Marcé-Grau A; Canonico F; Iascone M; Fossati C; Sala-Coromina J; Rouvet I; Schlüter A; Goizet C; Ruiz M; Michaud V; Chacón A; Barredo E; O'Heir E; O'Leary M; Mandrile G; Pavinato L; Saettini F; Benkirane M; Roubertie A; Raspall-Chaure M; de la Calle I; Planas-Serra L; Vélez-Santamaria V; Rodríguez-Palmero A; Verdura E; et alii...