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Plos One|March 18, 2014
Monoallelic germline TSC1 mutations are permissive for T lymphocyte development and homeostasis in tuberous sclerosis complex individualsKarolina Pilipow, Veronica Basso, Nicola Migone, et al.Plos One|June 8, 2019
Correction: Monoallelic Germline TSC1 Mutations Are Permissive for T Lymphocyte Development and Homeostasis in Tuberous Sclerosis Complex IndividualsKarolina Pilipow, Veronica Basso, Nicola Migone, et al.Annals of Human Genetics|October 4, 2007
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20Simona Cavalieri, Ada Funaro, Patrizia Pappi, et al.Nature|March 15, 2002
The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-MetAnnalisa Petrelli, Giorgio F Gilestro, Stefania Lanzardo, et al.Human Mutation|August 31, 2006
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletionsSimona Cavalieri, Ada Funaro, Paola Porcedda, et al.Journal of Child Neurology|July 5, 2007
Intractable epilepsy in hemimegalencephaly and tuberous sclerosis complexMaria P Guerra, Francesca Cavalleri, Nicola Migone, et al.Human Mutation|March 26, 2003
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasiaSilvia Saviozzi, Alessandro Saluto, Maria Piane, et al.The Journal of Molecular Diagnostics : JMD|November 1, 2005
An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 geneAlessandro Saluto, Alessandro Brussino, Flora Tassone, et al.American Journal of Medical Genetics. Part A|September 17, 2013
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genesAlessandro Calcia, Giorgia Gai, Eleonora Di Gregorio, et al.Journal of Neurology|July 26, 2002
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansionsAlfredo Brusco, Claudia Cagnoli, Alessandra Franco, et al.Pageof 2