| | Title | Authors / Editors | Date |
|
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:129119 |
Multiple arteriovenous malformations caused by RASA1 gene mutation presenting during pregnancy - a case report and review of the literature |
Manzocchi Besson, Sara; Jastrow Meyer, Nicole; Bounameaux, Henri; La Scala, Giorgio; ... Robert-Ebadi, Helia |
2019 |
|
unige:135517 |
PAX5 P80R mutation identifies a novel subtype of B-cell precursor acute lymphoblastic leukemia with favorable outcome |
Passet, Marie; Boissel, Nicolas; Sigaux, François; Saillard, Colombe; ... Clappier, Emmanuelle |
2019 |
|
unige:124279 |
A unique factor XIII mutation in southeastern Iran with an unexpectedly high prevalence: khash factor XIII |
Dorgalaleh, Akbar; Tabibian, Shadi; Shams, Mahmood; Majid, Golbahar; ... Safa, Majid |
2019 |
|
unige:136247 |
Polyamine uptake transporter 2 (put2) and decaying seeds enhance phyA-mediated germination by overcoming PIF1 repression of germination |
Kim, Woohyun; Zeljković, Sanja Ćavar; Piskurewicz, Urszula; Megies, Christian; ... Lopez Molina, Luis |
2019 |
|
unige:112686 |
A VP1 mutation acquired during an enterovirus 71 disseminated infection confers heparan sulfate binding ability and modulates ex vivo tropism |
Tseligka, Eirini; Sobo, Komla; Stoppini, Luc; Cagno, Valeria; ... Tapparel, Caroline |
2018 |
|
unige:110356 |
Quantifying the fitness cost of HIV-1 drug resistance mutations through phylodynamics |
Kühnert, Denise; Kouyos, Roger; Shirreff, George; Pečerska, Jūlija; ... Bonhoeffer, Sebastian |
2018 |
|
unige:128942 |
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity |
van Setten, Jessica; Brody, Jennifer A; Jamshidi, Yalda; Swenson, Brenton R; ... Sotoodehnia, Nona |
2018 |
|
unige:128423 |
Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome |
Dorval, Guillaume; Gribouval, Olivier; Martinez-Barquero, Vanesa; Machuca, Eduardo; ... Boyer, Olivia |
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:124450 |
Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations |
Pellagatti, Andrea; Armstrong, Richard N; Steeples, Violetta; Sharma, Eshita; ... Boultwood, Jacqueline |
2018 |
|
unige:127898 |
Differential daptomycin resistance development in Staphylococcus aureus strains with active and mutated gra regulatory systems |
Müller, Anna; Grein, Fabian; Otto, Andreas; Gries, Kathrin; ... Sahl, Hans-Georg |
2018 |
|
unige:127123 |
NBEA: Developmental disease gene with early generalized epilepsy phenotypes |
Mulhern, Maureen S; Stumpel, Constance; Stong, Nicholas; Brunner, Han G; ... Sands, Tristan T |
2018 |
|
unige:128592 |
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families |
Fabre, Alexandre; Petit, Laëtitia Marie; Hansen, Lars F; Wewer, Anne V; ... Paerregaard, Anders |
2018 |
|
unige:128698 |
Molecular characterization of fluoroquinolones, macrolides, and imipenem resistance in Haemophilus influenzae: analysis of the mutations in QRDRs and assessment of the extent of the AcrAB-TolC-mediated resistance |
Cherkaoui, Abdessalam; Gaia, Nadia; Baud, Damien; Leo, Stefano; ... Schrenzel, Jacques |
2018 |
|
unige:136251 |
A Maternally Deposited Endosperm Cuticle Contributes to the Physiological Defects of transparent testa Seeds |
Loubery, Sylvain Philippe; De Giorgi, Julien; Utz-Pugin, Anne; Demonsais, Lara; Lopez Molina, Luis |
2018 |
|
unige:111283 |
Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study |
Cash, David M; Bocchetta, Martina; Thomas, David L; Dick, Katrina M; ... Rohrer, Jonathan D |
2018 |
|
unige:99533 |
Not5-dependent co-translational assembly of Ada2 and Spt20 is essential for functional integrity of SAGA. |
Kassem, Sari; Villanyi, Zoltan; Collart, Martine |
2017 |
|
unige:107721 |
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects |
De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; ... Valente, Enza Maria |
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 |
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