E. Spadoni

发表

Smith-Magenis syndrome and growth hormone deficiency

G. Marseglia, L. Larizza, C. Danesino, 2004, European Journal of Pediatrics.

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

D. Larizza, H. Brunner, H. Bokhoven, 2006, European Journal of Human Genetics.

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.

K. Devriendt, A. Federico, A. Verri, 2004, Annales de genetique.

Genetic heterogeneity for a Nijmegen breakage‐like syndrome

I. Demuth, A. di Masi, A. Antoccia, 2003, Clinical genetics.

An investigation of genetic variation in complex disorders of the pituitary gland

E. Spadoni, 2011 .

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

K. Sperling, A. di Masi, A. Antoccia, 2006, Human molecular genetics.

Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.

A. di Masi, A. Antoccia, C. Tanzarella, 2006, Genetic testing.

Chromosome instability and nibrin protein variants in NBS heterozygotes

A. Antoccia, C. Tanzarella, G. Marseglia, 2003, European Journal of Human Genetics.

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.

V. Lisi, C. Olivieri, C. Danesino, 2002, Genetic counseling.