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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome Sailani, Mohammad Reza; Makrythanasis, Periklis; Valsesia, Armand; Santoni, Federico; ... Antonarakis, Stylianos 2013
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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study Makrythanasis, Periklis; van Bon, Bw; Merla, Giuseppe; Antonarakis, Stylianos; Hoischen, A 2013
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Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M. R.; ... Reymond, Alexandre 2008
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions Howald, C.; Merla, Giuseppe; Digilio, M. C.; Amenta, S.; ... Reymond, Alexandre 2006
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Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes Merla, Giuseppe; Howald, Cedric; Henrichsen, C. N.; Lyle, Robert; ... Reymond, Alexandre 2006
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Detection of aneuploidies by paralogous sequence quantification Deutsch, Samuel; Choudhury, U.; Merla, Giuseppe; Howald, C.; ... Antonarakis, Stylianos 2004
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The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3 Merla, Giuseppe; Howald, Cedric; Antonarakis, Stylianos; Reymond, Alexandre 2004
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Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome Deutsch, Samuel; Rideau, Alexandra; Bochaton-Piallat, Marie-Luce; Merla, Giuseppe; ... Beris, Photis 2003