| | Title | Authors / Editors | Date |
|
unige:8746 |
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 |
|
unige:8745 |
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients |
Fokstuen, Siv; Antonarakis, Stylianos; Blouin, Jean-Louis |
2003 |
|
unige:9174 |
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 |
|
unige:73103 |
Prenatal diagnostic indicators of paternal uniparental disomy 14 |
Curtis, Logos Simian; Antonelli, Eric; Vial, Yvan; Rimensberger, Peter; ... Fokstuen, Siv |
2006 |
|
unige:1055 |
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |
Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis |
2008 |
|
unige:21269 |
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 |
|
unige:32205 |
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report |
Antonarakis, Stylianos; Fokstuen, Siv; Engel, Eric; Dermitzakis, Emmanouil; ... Mostafavi, Maryam |
2011 |
|
unige:25066 |
Are abdominal wall defects and external genitalia anomalies randomly expressed in some families? |
Wonkam, Ambroise; Extermann, Philipe; Birraux, Jacques Maurice; Fokstuen, Siv |
2011 |
|
unige:34666 |
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 |
|
unige:34519 |
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders |
Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis |
2014 |
|
unige:42302 |
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 |
|
unige:42303 |
Next generation diagnostics on cardiomyopathy |
Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv |
2014 |
|
unige:78533 |
High throughput sequencing for the diagnosis of inherited hypertrophic cardiomyopathy and other mendelian cardiac disorders |
Fokstuen, Siv |
2015 |
|
unige:88597 |
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 |
|
unige:88998 |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders |
Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos |
2016 |
|
unige:92651 |
Defining categories of actionability for secondary findings in next-generation sequencing |
Moret, Céline; Mauron, Alex; Fokstuen, Siv; Makrythanasis, Periklis; Hurst, Samia |
2017 |
|
unige:108120 |
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 |
|
unige:139874 |
Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature |
Belin, Sarah; Delco, Cristina Maria; Parvex, Paloma Maria; Hanquinet, Sylviane; ... Eperon, Isabelle |
2019 |
Fokstuen, Siv
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