Showing 1 - 6 results of 6 for search 'Martina Busè', query time: 0.03s
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12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature by Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione
Published 2020-07-01
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Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene by Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione
Published 2022-08-01
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Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly by Emanuela Salzano, Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Busè, Francesca Mercadante, Sabina Barresi, Arturo Ferrara, Cecilia Mancini, Marco Tartaglia, Maria Piccione, Maria Piccione
Published 2023-02-01
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12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature by Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Serena Redaelli, Marta Massimello, Silvia Beatrice Maitz, Mattia Gentile, Emanuela Ponzi, Paola Orsini, Anna Zilio, Annamaria Montaldi, Annapaola Calò, Anna Paola Capra, Silvana Briuglia, Maria Angela La Rosa, Lucia Grillo, Corrado Romano, Sebastiano Bianca, Michela Malacarne, Martina Busè, Maria Piccione, Lidia Larizza
Published 2022-04-01
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