| | Title | Authors / Editors | Date |
|
unige:33908 |
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 |
|
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:75882 |
Multiple mantleomas: an unusual clinical presentation of an intriguing tumour |
Thielen, A.-M; Blouin, Jean-Louis; Piris, A; Mihm, M C; Kaya, Guerkan |
2014 |
|
unige:42303 |
Next generation diagnostics on cardiomyopathy |
Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv |
2014 |
|
unige:76219 |
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 |
|
unige:76288 |
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 |
|
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:98395 |
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 |
|
unige:108164 |
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 |
|
unige:123733 |
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 |
|
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:108165 |
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 |
|
unige:127542 |
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 |
|
unige:131525 |
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 |
|
unige:148701 |
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients |
Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; ... Guipponi, Michel |
2021 |
Blouin, Jean-Louis
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