Sfoglia per AUTORE
JOHNSON D
Collezione AOU Città della Salute di Torino

  

Items : 3

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2025 Mar;27(3):101348. doi: 10.1016/j.gim.2024.101348. Epub 2024 Dec 27.
2025
AOU Città della Salute di Torino

Pang L; Bell L; Uhlman J; Narumanch T; Peron K; Matthews N; Morrison JL; Wheeler PG; Levy RJ; Kortüm F; Low K; Herget T; Lynch SA; Quin S; Cogné B; Kenny J; Isidor B; Green A; Mullegama SV; Bird LM; Bijlsma EK; Andersen CB; Andersen UA; Fagerberg C; Morgan AT; Amor DJ; Atallah I; Campos-Xavier B; Serrano Russi AH; et alii...

Genotype-Phenotype Correlation of SCN5A Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands. in Circulation. Genomic and precision medicine / Circ Genom Precis Med. 2021 Oct;14(5):e003222. doi: 10.1161/CIRCGEN.120.003222. Epub 2021 Aug 31.
2021
AOU Città della Salute di Torino

Gaita F; Brugada P; Veltmann C; Yan GX; Priori SG; Tfelt-Hansen J; Brugada J; Delise P; Takagi M; Allocca G; Casado-Arroyo R; Corrado D; Calo L; Brugada R; Arbelo E; Jespersen CH; Mazzanti A; Sarquella-Brugada G; Conte G; Huang Z; Giustetto C; Mizusawa Y; Denjoy I; Postema PG; Aiba T; Kim SH; Kamakura T; Jm Juang J; Takahashi Y; et alii...

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...