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Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B|May 27, 2010
Detection of transplacental melanoma metastasis using quantitative PCRAlessandro Raso, Samantha Mascelli, Paolo Nozza, et al.Journal of Medical Genetics|May 20, 2022
Gain-of-function p.F28S variant in <i>RAC3</i> disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorderMasashi Nishikawa, Marcello Scala, Muhammad Umair, et al.Case Reports in Medicine|January 1, 2025
Congenital Nasal Bones Agenesis: Report of a Rare MalformationMonica Russo, Chiara Ferrecchi, Silvia Rebella, et al.European Journal of Human Genetics : EJHG|February 16, 2023
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categoriesSimona Amenta, Giuseppe Marangi, Daniela Orteschi, et al.Human Molecular Genetics|August 16, 2011
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humansJung Hwa Seo, Yulia Zilber, Sima Babayeva, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|February 25, 2006
HLXB9 homeobox gene and caudal regression syndromeElisa Merello, Patrizia De Marco, Samantha Mascelli, et al.Birth Defects Research|July 17, 2025
Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal ModelsFerruccio Romano, Patrizia De Marco, Marzia Ognibene, et al.Journal of Molecular Neuroscience : MN|March 15, 2012
De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformationsLorena Mosca, Silvana Pileggi, Francesca Avemaria, et al.Genes|April 28, 2023
Exome Analysis Reveals Novel Missense and Deletion Variants in the <i>CC2D2A</i> Gene as Causative of Joubert SyndromeRute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, et al.Genes|April 23, 2022
Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of LiteratureLetteria Anna Morabito, Anna Elsa Maria Allegri, Anna Paola Capra, et al.Pageof 18