| | Title | Authors / Editors | Date |
|
unige:143934 |
Clinical and biological features of PTPN2-deleted adult and pediatric T-cell acute lymphoblastic leukemia |
Alcantara, Marion; Simonin, Mathieu; Lhermitte, Ludovic; Touzart, Aurore; ... Asnafi, Vahid |
2019 |
|
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:131210 |
Rescue of an aggressive female sexual courtship in mice by CRISPR/Cas9 secondary mutation in vivo |
Zakany, Jozsef; Duboule, Denis |
2018 |
|
unige:123105 |
Model for the architecture of caveolae based on a flexible, net-like assembly of cavin1 and caveolin discs |
Stoeber, Miriam Carolin; Schellenberger, Pascale; Siebert, C Alistair; Leyrat, Cedric; ... Grünewald, Kay |
2016 |
|
unige:90270 |
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 |
Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E |
2014 |
|
unige:34630 |
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature |
Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline |
2013 |
|
unige:32871 |
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype |
Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis |
2011 |
|
unige:25536 |
Analyses of the functional regions of DEAD-box RNA "helicases" with deletion and chimera constructs tested in vivo and in vitro |
Banroques, Josette; Cordin, Olivier; Doere, Monique; Linder, Patrick; Tanner, N Kyle |
2011 |
|
unige:25448 |
Transcriptome analysis of Neisseria meningitidis in human whole blood and mutagenesis studies identify virulence factors involved in blood survival |
Echenique-Rivera, Hebert; Muzzi, Alessandro; Del Tordello, Elena; Seib, Kate L; ... Serruto, Davide |
2011 |
|
unige:30570 |
Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice |
Papaioannou, Marilena D; Lagarrigue, Mélanie; Vejnar, Charles; Rolland, Antoine D; ... Nef, Serge |
2011 |
|
unige:75385 |
NS-based live attenuated H1N1 pandemic vaccines protect mice and ferrets |
Zhou, Bin; Li, Yan; Belser, Jessica A; Pearce, Melissa B; ... Wentworth, David E |
2010 |
|
unige:8901 |
Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects |
Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis |
2010 |
|
unige:21040 |
Combined pancreatic islet-lung transplantation: a novel approach to the treatment of end-stage cystic fibrosis |
Kessler, L.; Bakopoulou, S.; Kessler, R.; Massard, G.; ... Berney, Thierry |
2010 |
|
unige:20737 |
Control of the Staphylococcus aureus toxic shock tst promoter by the global regulator SarA |
Andrey, Diego Olivier; Renzoni, Adriana Maria; Monod, Antoinette; Lew, Daniel Pablo; ... Kelley, William |
2010 |
|
unige:9051 |
Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia |
Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis |
2009 |
|
unige:9166 |
Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening |
D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride |
2009 |
|
unige:8999 |
A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream |
Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite |
2009 |
|
unige:4476 |
p23/Sba1p protects against Hsp90 inhibitors independently of its intrinsic chaperone activity |
Forafonov, Fedor; Toogun, Oyetunji A.; Grad, Iwona; Suslova, Elena; ... Picard, Didier |
2008 |
|
unige:862 |
CFTR in a lipid raft-TNFR1 complex modulates gap junctional intercellular communication and IL-8 secretion |
Dudez, Tecla; Borot, Florence; Huang, Song; Kwak, Brenda; ... Chanson, Marc |
2008 |
|
unige:1251 |
Impact of a three amino acid deletion in the CH2 domain of murine IgG1 on Fc-associated effector functions |
Baudino, Lucie Clementine; Nimmerjahn, Falk; Shinohara, Yasuro; Furukawa, Jun-Ichi; ... Izui, Shozo |
2008 |
Sequence deletion
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