1. CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. Issue 2 (20th January 2018) Authors: Poloni, Soraia; Sperb‐Ludwig, Fernanda; Borsatto, Taciane; Weber Hoss, Giovana; Doriqui, Maria Juliana R.; Embiruçu, Emília K.; Boa‐Sorte, Ney; Marques, Charles; Kim, Chong A.; Fischinger Moura de Souza, Carolina; Rocha, Helio; Ribeiro, Marcia; Steiner, Carlos E.; Moreno, Carolina A.; Bernardi, P... Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 2(2018) Page Start: 160 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. Issue 1 (22nd April 2020) Authors: Ranza, Emmanuelle; Guimier, Anne; Verloes, Alain; Capri, Yline; Marques, Charles; Auclair, Martine; Mathieu‐Dramard, Michèle; Morin, Gilles; Thevenon, Julien; Faivre, Laurence; Thauvin‐Robinet, Christel; Innes, A. Micheil; Dyment, David A.; Vigouroux, Corinne; Amiel, Jeanne Journal: Clinical genetics Issue: Volume 98:Issue 1(2020) Page Start: 10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗