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Annals of Human Genetics|October 11, 2018
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndromeViola Alesi, Maria Lisa Dentici, Sara Loddo, et al.
Journal of Clinical Medicine|August 26, 2022
Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG SyndromeFrancesco Demaria, Paolo Alfieri, Maria Cristina Digilio, et al.
Frontiers in Genetics|February 21, 2024
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature reviewChiara Minotti, Ludovico Graziani, Ester Sallicandro, et al.
Italian Journal of Pediatrics|September 18, 2024
Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literatureFlaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, et al.
Frontiers in Neuroscience|January 10, 2018
De novo Synthesis of Sphingolipids Is Defective in Experimental Models of Huntington's DiseaseAlba Di Pardo, Abdul Basit, Andrea Armirotti, et al.
Society of Reproduction and Fertility Supplement|June 15, 2007
Validation of a testis specific serine/threonine kinase [TSSK] family and the substrate of TSSK1 & 2, TSKS, as contraceptive targetsB Xu, Z Hao, K N Jha, et al.
European Journal of Pediatrics|August 30, 2007
Costello syndrome: clinical diagnosis in the first year of lifeM Cristina Digilio, Anna Sarkozy, Rossella Capolino, et al.
Genes, Brain, and Behavior|May 16, 2022
Global loss of Neuron-specific gene 1 causes alterations in motor coordination, increased anxiety, and diurnal hyperactivity in male miceRoman Austin, Praveen Chander, Amber J Zimmerman, et al.
International Journal of Molecular Sciences|October 14, 2020
The Discovery of Highly Potent THP Derivatives as OCTN2 Inhibitors: From Structure-Based Virtual Screening to In Vivo Biological ActivityFrancesca Di Cristo, Anna Calarco, Filomena Anna Digilio, et al.
BMC Genomics|July 31, 2013
Transcriptomic and proteomic analysis of a compatible tomato-aphid interaction reveals a predominant salicylic acid-dependent plant responseValentina Coppola, Mariangela Coppola, Mariapina Rocco, et al.
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