First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene María José Sánchez-Soler; Ana Teresa Serrano-Antón; Vanesa López-González; María Juliana Ballesta Martínez; Encarna Guillén-Navarro;

Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases María José Sánchez-Soler; Ana Teresa Serrano-Antón; Vanesa López-González; María Juliana Ballesta-Martínez; Encarna Guillén-Navarro;

Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study María José Sánchez-Soler; Vanesa López-González; María Juliana Ballesta-Martínez; Jorge Gálvez- Pradillo; Rosario Domingo-Jiménez; Virgina Pérez-Fernández; Encarna Guillén-Navarro;