Daniela Melis

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo et al. · European Journal of Human Genetics · 2015 · 185 citations · Full text

Clinical Disorders, Genetic Disorder, Genetics +7

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 171 citations · Full text

Neurological Disorder, Clinical Neurology, Baraitser–winter Cerebrofrontofacial Syndrome +3

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

Estimated glomerular filtration rate, albuminuria and mortality in type 2 diabetes: the Casale Monferrato study

Graziella Bruno, Franco Merletti, G Bargero et al. · Diabetologia · 2007 · 117 citations · Full text

Urology, Renal Disease, Renal Function +10

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Immunodeficiencies, Genetics, Pathology +20