Maria Francesca Bedeschi

(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

Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients

Maria Francesca Bedeschi, María Clara Bonaglia, Rita Grasso et al. · Pediatric Neurology · 2006 · 170 citations

Neurology, Corpus Callosum, Genetic Study +3

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Sheila Unger, Maria W. Górna, Antony Le Béchec et al. · The American Journal of Human Genetics · 2013 · 136 citations · Full text

Bone Disease, Developmental Biology, Mendelian Disorder +5

Moebius syndrome: clinical features, diagnosis, management and early intervention

Odoardo Picciolini, Matteo Porro, Elisa Cattaneo et al. · ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics · 2016 · 118 citations · Full text

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