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European Journal of Human Genetics : EJHG|January 1, 2018
Regulatory variants of FOXG1 in the context of its topological domain organisationMana M Mehrjouy, Ana Carolina S Fonseca, Nadja Ehmke, et al.
American Journal of Medical Genetics. Part A|July 26, 2008
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island populationMarianna Bugiani, Yolanda Gyftodimou, Paraskevi Tsimpouka, et al.
Human Mutation|January 18, 2008
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegiaAlessia Arnoldi, Alessandra Tonelli, Francesca Crippa, et al.
European Journal of Human Genetics : EJHG|June 17, 2020
AAV-mediated FOXG1 gene editing in human Rett primary cellsSusanna Croci, Miriam Lucia Carriero, Katia Capitani, et al.
Journal of Human Genetics|November 9, 2007
Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.
International Journal of Oncology|May 26, 2023
Role of telomere length in human carcinogenesis (Review)Aristidis Tsatsakis, Tatiana Oikonomopoulou, Taxiarchis Konstantinos Nikolouzakis, et al.
Kidney International|May 25, 2002
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndromeIlaria Longo, Paola Porcedda, Francesca Mari, et al.
Brain : a Journal of Neurology|July 14, 2020
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defectAlisdair McNeill, Emanuela Iovino, Luke Mansard, et al.
Cancer Science|February 3, 2009
Array comparative genomic hybridization in retinoma and retinoblastoma tissuesKatia Sampieri, Mariangela Amenduni, Filomena Tiziana Papa, et al.
Computational and Structural Biotechnology Journal|November 24, 2025
Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalenceElena Pasquinelli, Giulia Rollo, Flavia Tinella, et al.
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