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Human Mutation|July 5, 2001
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11I Meloni, P Rubegni, G De Aloe, et al.Journal of Human Genetics|October 23, 2015
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disabilityLaura Bianciardi, Marco Fichera, Pinella Failla, et al.European Journal of Human Genetics : EJHG|July 14, 2011
iPS cells to model CDKL5-related disordersMariangela Amenduni, Roberta De Filippis, Aaron Y L Cheung, et al.European Journal of Human Genetics : EJHG|September 8, 2011
Advances in Alport syndrome diagnosis using next-generation sequencingRosangela Artuso, Chiara Fallerini, Laura Dosa, et al.Jvs-Vascular Science|October 7, 2021
Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformationMaria Palmieri, Aurora Currò, Andrea Tommasi, et al.Neuropediatrics|February 12, 2021
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment AspectsBenedikt Hofmeister, Celina von Stülpnagel, Cornelia Betzler, et al.Human Mutation|October 2, 2004
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel allelesMaria Savino, Maria d'Apolito, Vincenza Formica, et al.Human Mutation|November 15, 2018
Evidence of predisposing epimutation in retinoblastomaElisa Gelli, Anna Maria Pinto, Serena Somma, et al.Journal of Clinical Medicine|February 10, 2021
A Novel Nutraceutical Formulation Can Improve Motor Activity and Decrease the Stress Level in a Murine Model of Middle-Age AnimalsDimitris Tsoukalas, Ovidiu Zlatian, Mihaela Mitroi, et al.Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association|March 23, 2019
Indicator PCBs in farmed and wild fish in Greece - Risk assessment for the Greek populationElisavet A Renieri, Marina Goumenou, Dmitry A Kardonsky, et al.Pageof 63