Results 31 to 40 of about 196 (143)

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. [PDF]

Am J Hum Genet, 2023
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B.   +36 more
europepmc   +1 more source

The contribution of mosaicism to genetic diseases and de novo pathogenic variants. [PDF]

Am J Med Genet A, 2023
Tinker RJ, Bastarache L, Ezell K, Kobren SN, Esteves C, Rosenfeld JA, Macnamara EF, Hamid R, Cogan JD, Rinker D, Mukharjee S, Glass I, Dipple K, Phillips JA, Undiagnosed Diseases Network.   +14 more
europepmc   +1 more source

UEG Week 2024 Poster Presentations

United European Gastroenterology Journal, Volume 12, Issue S8, Page 665-1360, October 2024.
wiley   +1 more source

Perché abbiamo ancora bisogno di don Lorenzo Milani

, 2023
Una recensione di L’equivoco don Milani di Adolfo Scotto di Luzio (Einaudi, Torino 2023).
openaire   +3 more sources

Abstracts of the Fifth Brainstorming Research Assembly for Young Neuroscientists (BraYn), Italy, 28-30 September 2022. [PDF]

Neurol Int, 2023
Ferrara G.
europepmc   +1 more source

Mapping the human genetic architecture of COVID-19. [PDF]

Nature, 2021
COVID-19 Host Genetics Initiative.
europepmc   +1 more source

A service ecosystems perspective to explore social prescribing value co-creation for vulnerable young people in NEET situation. [PDF]

BMC Health Serv Res
Farina I, Sangiorgi D, Masella C, Simonelli I, Alves R, Marques MJ, Dias S, Dantas C, Herzog S, Paternoster S, Torri E, Bertotti M.   +11 more
europepmc   +1 more source

Don Lorenzo Milani e la Costituzione

Il saggio affronta l'impostazione di fondo di don Lorenzo Milani sulla Costituzione, con particolare riferimento al principio democratico, al principio di eguaglianza, al diritto all'istruzione, all'apertura internazionalista, al dovere di difesa della Patria ed alla libertà di coscienza, al rapporto tra Costituzione in senso materiale e ...
openaire   +1 more source

Italian validation of the SMA independence scale-upper limb module. [PDF]

Eur J Pediatr
Bravetti C, Coratti G, Pera MC, Gadaleta G, Mongini T, Coccia M, Ferrero A, Costantini EM, Longo A, Cumbo F, Catteruccia M, D'Amico A, Morando S, Brolatti N, Bruno C, Verriello L, Pessa ME, Antonaci L, Faini C, Liguori R, Vacchiano V, Ruggiero L, Zoppi D, Russo A, Torri F, Ricci G, Chiappini R, Siciliano G, Trabacca A, Agosto C, Benedetti F, Pane M, Mercuri E, ITASMAC working group.   +33 more
europepmc   +1 more source

Six years of spreading BLSD skills in schools: empowering teachers as trainers. [PDF]

Front Public Health
Calicchia S, Capanna S, De Rosa M, Papaleo B, Pera A.   +4 more
europepmc   +1 more source