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Systematic genetic study of diabetic youth in a single country reveals the prevalence of diabetes subtypes, novel candidate genes, and response to precision therapy Stankute, Ingrida; Verkauskiene, Rasa; Blouin, Jean-Louis; Klee, Philippe; ... Schwitzgebel Luscher, Valérie 2020
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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes Stekelenburg, Caroline; Gerster, Karine; Blouin, Jean-Louis; Lang-Muritano, Mariarosaria; ... Schwitzgebel Luscher, Valérie 2019
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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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Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes Klee, Philippe; Dirlewanger, Mijam; Lavallard, Vanessa; Mclin, Valérie Anne; ... Schwitzgebel Luscher, Valérie 2018
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
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Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel Kherra, Sakina; Blouin, Jean-Louis; Santoni, Federico; Schwitzgebel Luscher, Valérie 2017
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Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas Alexander; ... Nikolaev, Sergey Igorievich 2017
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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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Diabetes and immune thrombocytopenic purpura: a new association with good response to anti-CD20 therapy von Laer Tschudin, Letizia; Schwitzgebel Luscher, Valérie; von Scheven-Gête, Annette; Blouin, Jean-Louis; ... Phan-Hug, Franziska 2015
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Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant Anderson De La Llana, Sabrina; Klee, Philippe; Santoni, Federico; Stekelenburg, Caroline; ... Schwitzgebel Luscher, Valérie 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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Next generation diagnostics on cardiomyopathy Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv 2014
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Multiple mantleomas: an unusual clinical presentation of an intriguing tumour Thielen, A.-M; Blouin, Jean-Louis; Piris, A; Mihm, M C; Kaya, Guerkan 2014
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia Moore, Daniel J.; Onoufriadis, Alexandros; Shoemark, Amelia; Simpson, Michael A.; ... Mitchison, Hannah M. 2013
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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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Dissecting genetics of highly heterogeneous mendelian disorders: the example of Primary Ciliary Dyskinesia Blouin, Jean-Louis 2011
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Genetic variability of the mu-opioid receptor influences intrathecal fentanyl analgesia requirements in laboring women Landau, Ruth; Kern, Christian; Columb, Malachy O.; Smiley, Richard M.; Blouin, Jean-Louis 2008
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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
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Candidate gene analysis in three families with acilia syndrome Wessels, Marja W.; Avital, Avraham; Failly, Mike; Munoz, Analia; ... Willems, Patrick J. 2008
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
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