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Molecular Cytogenetics|August 4, 2015
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degenerationPamela Magini, Monica Poscente, Simona Ferrari, et al.
Molecular Vision|January 5, 2011
Novel mutations in the USH1C gene in Usher syndrome patientsMaría José Aparisi, Gema García-García, Teresa Jaijo, et al.
Annals of Clinical and Translational Neurology|June 22, 2018
Two novel <i>PRNP</i> truncating mutations broaden the spectrum of prion amyloidosisSabina Capellari, Simone Baiardi, Rita Rinaldi, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancerGiulia Severi, Laura Bernardini, Silvana Briuglia, et al.
Gene|December 3, 2013
Array CGH analysis of a cohort of Russian patients with intellectual disabilityAnna A Kashevarova, Lyudmila P Nazarenko, Nikolay A Skryabin, et al.
Human Molecular Genetics|March 6, 2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brainLachlan A Jolly, Lam Son Nguyen, Deepti Domingo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 15, 2010
Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxiaAlessandro Brussino, Claudio Graziano, Dario Giobbe, et al.
Cancers|December 17, 2024
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann SpectrumDiana Carli, Federico Rondot, Maria Luca, et al.
Clinical Genetics|January 7, 2026
White-Sutton Syndrome: Insight of an Italian Cohort of 19 SubjectsAnna Facchini, Maria Pina Concas, Stefania Zampieri, et al.
Cancers|April 14, 2025
Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct GenotypeMichela Rondoni, Giovanni Marconi, Annalisa Nicoletti, et al.
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