RE-BVS – Piemonte Repository

Sfoglia per AUTORE
MENDES Á
Collezione AOU Città della Salute di Torino

Items : 2

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...

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. in European journal of human genetics : EJHG / Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.

2018
AOU Città della Salute di Torino

Lucassen AM; van Langen IM; Halbersma-Konings TF; Mendes Á; Melegh B; van El CG; Turnpenny PD; Kayserili H; Cordier C; Benjamin C; Dheensa S; Carrieri D; Sirchia F; Clarke AJ; Forzano F; Kelly SE; Sirchia F; Carrieri D; Dheensa S; Benjamin C; Kayserili H; Cordier C; van El CG; Turnpenny PD; Melegh B; Mendes Á; Halbersma-Konings TF; van Langen IM; Lucassen AM; et alii...