Patrizia Ronchetto

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Giovanni Romeo, Patrizia Ronchetto, Yin Luo et al. · Nature · 1994 · 702 citations

Somatic Variant, Point Mutations, Mendelian Disorder +10

RORB gene and 9q21.13 microdeletion: Report on a patient with epilepsy and mild intellectual disability

M. G. Baglietto, Gianluca Caridi, Giorgio Gimelli et al. · European Journal of Medical Genetics · 2013 · 64 citations

Molecular Neuroscience, Genetic Disorder, Genetics +10

Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

S. Rendine, Francesc Calafell, N Cappello et al. · Annals of Human Genetics · 1997 · 59 citations

Genetics, Genetic Epidemiology, Pathology +19

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli et al. · Orphanet Journal of Rare Diseases · 2011 · 53 citations · Full text

Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

S. Rendine, F. CALAFELL, N. CAPPELLO et al. · Annals of Human Genetics · 1997 · 48 citations

Cystic Fibrosis Mutations, Genetic Disorder, Genetics +8