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Merla, Giuseppe
Merla, Giuseppe
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2016
Scientific Articles
unige:86476
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D;
Fish, Richard
; ...
Merla, Giuseppe
2013
Scientific Articles
unige:34338
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
Professional Articles
unige:34633
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
Makrythanasis, Periklis
; van Bon, Bw;
Merla, Giuseppe
;
Antonarakis, Stylianos
; Hoischen, A
2011
Scientific Articles
unige:34657
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Jacquemont, Sébastien;
Reymond, Alexandre
;
Antonarakis, Stylianos
;
Sloan Bena, Frédérique
; ...
Vollenweider, Peter
2008
Scientific Articles
unige:19091
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase
Micale, Lucia; Fusco, Carmela; Augello, Bartolomeo; Napolitano, Luisa M. R.; ...
Reymond, Alexandre
2006
Scientific Articles
unige:8897
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
unige:8815
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
2004
Scientific Articles
unige:8722
Detection of aneuploidies by paralogous sequence quantification
Deutsch, Samuel; Choudhury, U.;
Merla, Giuseppe
; Howald, C.; ...
Antonarakis, Stylianos
unige:8896
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
;
2003
Scientific Articles
unige:8725
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
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