Export 7 results:
Autore Titolo Tipo [ Anno(Desc)]
Filtri: Autore è Gasparini, P  [Clear All Filters]
2012
Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature. Eur J Med Genet 2012;55(2):117-9.
Athanasakis E, Biarnés X, Bonati MT, Gasparini P, Faletra F. Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome. Mol Syndromol 2012;3(1):21-24.
Faletra F, Berti I, Tommasini A, Pecile V, Cleva L, Alberini E, Bruno I, Gasparini P. Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis. Dermatology 2012;225(4):294-7.
Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P. Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. Mol Syndromol 2012;3(1):30-33.
2014
Vozzi D, Morgan A, Vuckovic D, D'Eustacchio A, Abdulhadi K, Rubinato E, Badii R, Gasparini P, Girotto G. Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients. Gene 2014;542(2):209-16.
2015
Vuckovic D, Gasparini P, Soranzo N, Iotchkova V. MultiMeta: an R package for meta-analyzing multi-phenotype genome-wide association studies. Bioinformatics 2015;31(16):2754-6.
2017
Zupin L, Robino A, Navarra CO, Pirastu N, Di Lenarda R, Gasparini P, Crovella S, Bevilacqua L. LTF and DEFB1 polymorphisms are associated with susceptibility toward chronic periodontitis development. Oral Dis 2017;23(7):1001-1008.

Amministrazione Trasparente