Barbara Gentilin

Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis†

Monica Miozzo, Carlo Selmi, Barbara Gentilin et al. · Hepatology · 2007 · 130 citations · Full text

Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli et al. · Human Mutation · 2010 · 89 citations · Full text

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

Cristina Gervasini, Francesca Romana Grati, Faustina Lalatta et al. · Genetics in Medicine · 2010 · 74 citations

Mayer-rokitansky-kuster-hauser Syndrome, Mendelian Disorder, Shox Duplications +2

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

Federica Natacci, Enrico Alfei, Lucia Tararà et al. · European Journal of Paediatric Neurology · 2015 · 44 citations

Chromosome 17Q21.31, Mendelian Disorder, Cytogenetics +12

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

M.F. Bedeschi, Lorenzo Colombo, Francesca Mari et al. · Molecular Syndromology · 2010 · 38 citations · Full text

Peculiar Minor Anomalies, Developmental Anomaly, Thumb Hypoplasia +15