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European Journal of Medical Genetics|June 29, 2011
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-ocPatrizia De Marco, Alessandro Raso, Silvana Beri, et al.European Journal of Human Genetics : EJHG|July 22, 2004
Inverted duplications: how many of them are mosaic?Tiziano Pramparo, Sabrina Giglio, Giuliana Gregato, et al.Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|June 14, 2014
The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexiaCecilia Marino, Paola Scifo, Pasquale A Della Rosa, et al.Plos One|January 6, 2018
From early stress to 12-month development in very preterm infants: Preliminary findings on epigenetic mechanisms and brain growthMonica Fumagalli, Livio Provenzi, Pietro De Carli, et al.Human Genetics|July 26, 2005
Reciprocal translocations: a trap for cytogenetists?Roberto Ciccone, Roberto Giorda, Giuliana Gregato, et al.Journal of Medical Genetics|January 31, 2018
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)Nehir Kurtas, Filippo Arrigoni, Edoardo Errichiello, et al.Human Mutation|May 12, 2009
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological functionChiara Vantaggiato, Francesca Redaelli, Sestina Falcone, et al.Psychoneuroendocrinology|September 15, 2022
Sex-dependent association between variability in infants' OXTR methylation at birth and negative affectivity at 3 monthsSarah Nazzari, Serena Grumi, Marco Villa, et al.Epilepsia Open|June 7, 2019
Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndromeRobertino Dilena, Eleonora Mauri, Eleonora Aronica, et al.European Journal of Human Genetics : EJHG|July 22, 2010
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletionsMaria C Bonaglia, Susan Marelli, Francesca Novara, et al.Pageof 13