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 TitleAuthors / EditorsDate
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A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography Giacobino, Ariane; Dahoun, Sophie; Sizonenko, Pierre-Claude; Stalberg, Anna-Maria; ... Campana, Aldo 2000
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A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis Klee, Philippe; Bena, Frédérique; Birraux, Jacques Maurice; Dahoun, Sophie; ... Schwitzgebel Luscher, Valérie 2012
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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Antonarakis, Stylianos; Fokstuen, Siv; Engel, Eric; Dermitzakis, Emmanouil; ... Mostafavi, Maryam 2011
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Derivation of the first Swiss human embryonic stem cell line from a single blastomere of an arrested four-cell stage embryo Feki, Anis; Bosman, Alexis; Dubuisson, Jean-Bernard; Irion, Olivier; ... Jaconi, Marisa 2008
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Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes Delio, Maria; Schneider, Maude; Dahoun, Sophie; Eliez, Stéphan; Armando, Marco 2013
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Establishment of permanent cell lines purified from human mesothelioma: morphological aspects, new marker expression and karyotypic analysis Philippeaux, Marie-Marthe; Pache, Jean-Claude; Dahoun, Sophie; Barnet, Marc; ... Spiliopoulos, Anastase 2004
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Evolution des indications des diagnostics prénatals de 1999 à 2011 suite à l’introduction du test combiné à Genève Dahoun, Sophie 2013
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos 2009
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21 Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; ten Hallers, Boudewijn; ... Antonarakis, Stylianos 2007
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Laparoscopic-assisted vaginal pull-through: A new approach for congenital adrenal hyperplasia patients with high urogenital sinus Birraux, Jacques Maurice; Mouafo, Faustin Tambo; Dahoun, Sophie; Tardy, Veronique; ... Mure, Pierre-Yves 2015
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Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, Mohammad Reza; ... Feki, Anis 2014
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Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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NANOG priming before full reprogramming may generate germ cell tumours Grad, Iwona; Hibaoui, Youssef; Jaconi, Marisa; Chicha, Laurie; ... Feki, Anis 2011
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No association between DUP25 and anxiety disorders Henrichsen, C. N.; Delorme, Richard; Boucherie, Maria; Marelli, Dominique; ... Dahoun, Sophie 2004
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No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome Glaser, Bronwyn; Debbané, Martin; Hinard, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2006
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Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome Schneider, Maude; Van der Linden, Martial; Glaser, Bronwyn; Rizzi, Eleonora; ... Eliez, Stéphan 2012
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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
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Turner syndrome with complex mosaic monosomy and structural aorta anomalies Tissières, Pierre; Didier, Dominique; Dahoun, Sophie; Jaeggi, Edgard 2003
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Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity Gagos, Sarantis; Papaioannou, George; Chiourea, Maria; Merk-Loretti, Sophie; ... Dahoun, Sophie 2008