| | Title | Authors / Editors | Date |
|
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: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: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: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: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: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: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:99804 |
Role of Gag mutations in PI resistance in the Swiss HIV cohort study: bystanders or contributors? |
Kletenkov, K; Hoffmann, D; Böni, J; Yerly Ferrillo, Sabine; ... Klimkait, T |
2017 |
|
unige:103128 |
The novel chloroplast outer membrane kinase KOC1 is a required component of the plastid protein import machinery |
Zufferey, Mónica; Montandon, Cyrille; Douet, Véronique; Demarsy, Emilie; ... Kessler, Felix |
2017 |
|
unige:116780 |
CRISPR/Cas9 Genome Editing in Embryonic Stem Cells |
Andrey, Guillaume; Spielmann, Malte |
2017 |
|
unige:107719 |
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections |
Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Fluss, Joel Victor; ... Mogensen, Trine H |
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:107723 |
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU |
Korff, Christian; Bottani, Armand |
2017 |
|
unige:107726 |
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies |
Masnada, Silvia; Hedrich, Ulrike B S; Gardella, Elena; Korff, Christian; ... Rubboli, Guido |
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:107398 |
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma |
Von Bueren, André |
2017 |
|
unige:107412 |
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology |
Ripperger, Tim; Von Bueren, André |
2017 |
|
unige:99565 |
Imipenem heteroresistance in nontypeable Haemophilus influenzae is linked to a combination of altered PBP3, slow drug influx and direct efflux regulation |
Cherkaoui, Abdessalam; Diene, S M; Renzoni, Adriana Maria; Emonet, Stéphane Paul; ... Schrenzel, Jacques |
2017 |
|
unige:98886 |
Antimicrobial activity of ceftaroline against methicillin-resistant Staphylococcus aureus (MRSA) isolates collected in 2013-2014 at the Geneva University Hospitals |
Andrey, D O; Francois, Patrice; Manzano, Caroline Stéphanie; Bonetti, E J; ... Renzoni, Adriana Maria |
2017 |
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