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Expert Review of Proteomics|April 24, 2009
Puzzle of protein complexes in vivo: a present and future challenge for functional proteomicsMaria Monti, Marianna Cozzolino, Flora Cozzolino, et al.Diagnostics (Basel, Switzerland)|December 1, 2020
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian PatientsTiziana Fioretti, Luigi Auricchio, Angelo Piccirillo, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2017
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright ObjectsGaetano Terrone, Giuseppina Vitiello, Rita Genesio, et al.Italian Journal of Pediatrics|January 18, 2014
De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liverNovella Rapini, Roberta Lidano, Silvia Pietrosanti, et al.Genes|October 27, 2022
Different Mechanisms Cause Hypomethylation of Both <i>H19</i> and <i>KCNQ1OT1</i> Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome SpectrumFrancesco Passaretti, Laura Pignata, Giuseppina Vitiello, et al.Journal of Clinical Medicine|February 24, 2024
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror MovementsAdriana Prato, Lara Cirnigliaro, Federica Maugeri, et al.American Journal of Hematology|July 17, 2015
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)Immacolata Andolfo, Roberta Russo, Francesco Manna, et al.European Journal of Human Genetics : EJHG|February 11, 2016
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasiaGaetano Terrone, Norine Voisin, Ali Abdullah Alfaiz, et al.Genes|November 27, 2024
Inherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal DiagnosisCarmela Ardisia, Luigia De Falco, Giovanni Savarese, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 28, 2022
Electroencephalographic findings in ATRX syndrome: A new case series and review of literatureSalvatore Aiello, Maria Margherita Mancardi, Alfonso Romano, et al.Pageof 3