|
1
|
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
|
Eur J Med Genet
|
2012
|
1.21
|
|
2
|
ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.
|
Haematologica
|
2011
|
1.08
|
|
3
|
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
|
Mov Disord
|
2013
|
0.96
|
|
4
|
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
|
Ann Hum Genet
|
2009
|
0.83
|