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Genes|February 24, 2024
Landscape of Constitutional <i>SOX4</i> Variation in Human DisordersMina Grippa, Claudio Graziano
International Journal of Molecular Medicine|May 13, 2004
Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathyClaudio Graziano, Enrico Bertini, Carlo Minetti, et al.
Medicina|July 13, 2011
[Hypertension as predictive factor in renal cell cancer treated with antiangiogenic therapy]Luciana Gennari, Javier Belinsky, Claudio Graziano, et al.
BMC Medical Genetics|October 6, 2005
Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probesClaudio Graziano, Massimo Giorgi, Cecilia Malentacchi, et al.
Genes|February 25, 2023
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks SyndromeAnna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, et al.
Clinical Genetics|July 18, 2024
The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identifiedStefania Zampieri, Silvia Cattarossi, Lorenzo Ferri, et al.
Genes|October 23, 2021
Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the LiteratureJacopo Pruccoli, Claudio Graziano, Chiara Locatelli, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|January 2, 2022
Increased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndromeGianfranco Vornetti, Luca Spinardi, Elisabetta Mariucci, et al.
Blood|June 26, 2009
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutationClaudio Graziano, Simona Carone, Emanuele Panza, et al.
Genes|June 28, 2023
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of <i>PKD1</i> Hypomorphic AllelesEnrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, et al.
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