Two novel GJA1 variants in oculodentodigital dysplasia

by Nikolai P. Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg
Published 2019-09-01

A novel SPINK5 donor splice site variant in a child with Netherton syndrome

by Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer
Published 2021-03-01

Quantitative Analysis of Conjunctival and Retinal Vessels in Fabry Disease

by Andrea Sodi, Chiara Lenzetti, Daniela Bacherini, Lucia Finocchio, Tommaso Verdina, Isabella Borg, Francesca Cipollini, Fatema Ullah Patwary, Ilaria Tanini, Claudia Zoppetti, Stanislao Rizzo, Gianni Virgili
Published 2019-01-01

Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature

by Natália Oliva-Teles, Maria Chiara de Stefano, Louise Gallagher, Severin Rakic, Paula Jorge, Goran Cuturilo, Silvana Markovska-Simoska, Isabella Borg, Jeanne Wolstencroft, Zeynep Tümer, Adrian J. Harwood, Yllka Kodra, David Skuse
Published 2020-12-01