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Collezione AOU Città della Salute di Torino

Items : 4

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...

Modified Retzius-sparing robot-assisted radical prostatectomy for cases with anterior tumor: a propensity score-matched analysis. in World journal of urology / World J Urol. 2024 Mar 20;42(1):170. doi: 10.1007/s00345-024-04807-7.

2024
AOU Città della Salute di Torino

Qian J; Fu Y; Marra G; Zhang F; Wu X; Li D; Xu L; Qiu X; Gan W; Guo H;

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...

RICTOR variants are associated with neurodevelopmental disorders. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Dec 30. doi: 10.1038/s41431-024-01774-w.

2024
AOU Città della Salute di Torino

Carapito R; Molitor A; Pavinato L; Skeyni A; Lambert M; Pichot A; Jiang J; Spinnhirny P; Zimmermann L; Boucher P; Chung CWT; Elserafy N; Blair EM; Li D; Elisabeth B; Kotzaeridou U; Karch S; Wagner M; Lunsing RJ; Pfundt R; Boycott KM; Bruel AL; Mau-Them FT; Moutton S; Conti V; Mei D; Cetica V; Guerrini R; Brunet T; et alii...