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 TitleAuthors / EditorsDate
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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv 2018
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Defining categories of actionability for secondary findings in next-generation sequencing Moret, Céline; Mauron, Alex; Fokstuen, Siv; Makrythanasis, Periklis; Hurst, Samia 2017
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Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome Fluss, Joel Victor; Pellegrinelli, Jean-Marie; Fokstuen, Siv; Moutard, Marie-Laure; ... Hanquinet, Sylviane 2016
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
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High throughput sequencing for the diagnosis of inherited hypertrophic cardiomyopathy and other mendelian cardiac disorders Fokstuen, Siv 2015
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis 2014
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Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan 2014
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Next generation diagnostics on cardiomyopathy Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv 2014
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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice Fokstuen, Siv; Munoz, Analia; Melacini, Paola; Iliceto, Sabino; ... Blouin, Jean-Louis 2011
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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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Are abdominal wall defects and external genitalia anomalies randomly expressed in some families? Wonkam, Ambroise; Extermann, Philipe; Birraux, Jacques Maurice; Fokstuen, Siv 2011
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Myeloid proliferation without GATA1 mutations in a fetus with Down syndrome presenting in utero as a pericardial effusion Rougemont-Pidoux, Anne-Laure; Makrythanasis, Periklis; Finci, Vildana; Billieux, Marie-Hélène; ... Fokstuen, Siv 2010
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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Prenatal diagnostic indicators of paternal uniparental disomy 14 Curtis, Logos Simian; Antonelli, Eric; Vial, Yvan; Rimensberger, Peter; ... Fokstuen, Siv 2006
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L'apport de la génétique moléculaire en cardiologie clinique : l'exemple de la cardiomyopathie hypertrophique Fokstuen, Siv; Blouin, Jean-Louis; Lyle, Robert; Lerch, René; ... Sigwart, Ulrich 2005
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FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients Fokstuen, Siv; Antonarakis, Stylianos; Blouin, Jean-Louis 2003
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Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients Fokstuen, Siv; Bottani, Armand; Medeiros, P. F.; Antonarakis, Stylianos; ... Schinzel, A. 1997