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Molecular Cytogenetics|April 8, 2024
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four casesGiulia Vitetta, Laura Desiderio, Ilaria Baccolini, et al.Genes|July 27, 2024
Phenotypic Expansion of Autosomal Dominant <i>LZTR1</i>-Related Disorders with Special Emphasis on Adult-Onset FeaturesVera Uliana, Enrico Ambrosini, Antonietta Taiani, et al.European Journal of Medical Genetics|July 29, 2008
Private inherited microdeletion/microduplications: implications in clinical practiceMaria Antonietta Mencarelli, Eleni Katzaki, Filomena Tiziana Papa, et al.Journal of Dermatological Science|August 28, 2007
A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenitaHaihui Liao, Jane M Sayers, Neil J Wilson, et al.Genes, Chromosomes & Cancer|August 24, 2021
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type IMatteo Riva, Davide Martorana, Vera Uliana, 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.Journal of Human Genetics|February 12, 2020
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndromeEleni Katzaki, Chiara Pescucci, Vera Uliana, et al.Genes|February 24, 2024
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition TestingValeria Barili, Enrico Ambrosini, Beatrice Bortesi, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 9, 2009
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcomeElena Marcocci, Vera Uliana, Mirella Bruttini, et al.Clinical Genetics|July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniquesDiana Carli, Matteo Operti, Silvia Russo, et al.Pageof 4