| | Title | Authors / Editors | Date |
|
unige:153891 |
Induced pluripotent stem cells to understand mucopolysaccharidosis. i: demonstration of a migration defect in neural precursors |
Lito, Silvin; Sidibe, Adama; Ilmjarv, Sten; Burda, Patricie; ... Marteyn, Antoine |
2020 |
|
unige:138454 |
Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus |
Martin-Montalvo, Alejandro; López-Noriega, Livia; Jiménez-Moreno, Carmen; Herranz, Amanda; ... Gauthier, Benoit R |
2019 |
|
unige:128636 |
Diffuse high-grade gliomas with H3 K27M mutations carry a dismal prognosis independent of tumor location |
Karremann, Michael; Gielen, Gerrit H; Hoffmann, Marion; Wiese, Maria; ... Kramm, Christof M |
2018 |
|
unige:115121 |
Mutational epidemiology of congenital fibrinogen disorders |
Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite |
2018 |
|
unige:101839 |
Do Factor V Leiden and Prothrombin G20210A Mutations Predict Recurrent Venous Thromboembolism in Older Patients? |
Méan, Marie; Limacher, Andreas; Stalder, Odile; Angelillo-Scherrer, Anne; ... Aujesky, Drahomir |
2017 |
|
unige:107724 |
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects |
Ranza, Emmanuelle Nathalie; Korff, Christian |
2017 |
|
unige:111403 |
A Light Harvesting Complex-Like Protein in Maintenance of Photosynthetic Components in Chlamydomonas |
Zhao, Lei; Cheng, Dongmei; Huang, Xiahe; Chen, Mei; ... Huang, Fang |
2017 |
|
unige:154520 |
Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic states |
Kadoch, Cigall; Williams, Robert T; Calarco, Joseph P; Miller, Erik L; ... Crabtree, Gerald R |
2017 |
|
unige:144218 |
Structure and function of the PiuA and PirA siderophore-drug receptors from pseudomonas aeruginosa and acinetobacter baumannii |
Moynié, Lucile; Luscher, Alexandre; Rolo, Dora; Pletzer, Daniel; ... Kohler, Thilo |
2017 |
|
unige:96724 |
BMPR2 mutation is a potential predisposing genetic risk factor for congenital heart disease associated pulmonary vascular disease |
Liu, Dong; Liu, Qian-Qian; Guan, Li-Hua; Jiang, Xin; ... Jing, Zhi-Cheng |
2016 |
|
unige:142388 |
A novel recessive RPGRIP1 mutation causing leber congenital amaurosis |
Abouzeid, Hana; Othman, I S; Schorderet, D F |
2016 |
|
unige:75891 |
Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis |
Rohrer, Jonathan D; Frisoni, Giovanni |
2015 |
|
unige:38568 |
Abnormal junctions and permeability of myelin in PMP22-deficient nerves |
Guo, Jiasong; Wang, Leiming; Zhang, Yang; Wu, Jiawen; ... Li, Jun |
2014 |
|
unige:34839 |
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers |
Weckhuysen, Sarah; Holmgren, Philip; Hendrickx, Rik; Jansen, Anna C; ... Suls, Arvid |
2013 |
|
unige:77653 |
Lack of recognition of HLA class I mismatches outside α1/α2 domains by CD8+ alloreactive T lymphocytes: the HLA-B44 paradigm |
Bettens, F; Schanz, U; Tiercy, Jean-Marie |
2013 |
|
unige:37947 |
Mutations of DEPDC5 cause autosomal dominant focal epilepsies |
Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie |
2013 |
|
unige:32814 |
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population |
Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; ... Roze, Emmanuel |
2012 |
|
unige:31601 |
Imaging findings in a child with Loeys-Dietz syndrome |
Dhouib, Amira; Beghetti, Maurice; Didier, Dominique |
2012 |
|
unige:74862 |
Loss of DNA methylation affects the recombination landscape in Arabidopsis |
Mirouze, Marie; Lieberman Lazarovich, Michal; Aversano, Riccardo; Bucher, Etienne; ... Paszkowski, Jerzy |
2012 |
|
unige:28509 |
KRAS status and outcome of liver resection after neoadjuvant chemotherapy including bevacizumab (Br J Surg 2012; 99: 1575-1582) |
Mentha, Gilles |
2012 |
Mutation/genetics
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