| | Title | Authors / Editors | Date |
|
unige:34641 |
A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas |
Nikolaev, Sergey Igorievich; Sotiriou, Sotirios K; Pateras, Ioannis S; Santoni, Federico; ... Halazonetis, Thanos |
2012 |
|
unige:77288 |
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report |
Al Hamami, Hanan; Makrythanasis, Periklis; Al-Allawi, Nasir; Muhsin, Abdulrahman A; Antonarakis, Stylianos |
2014 |
|
unige:96873 |
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy |
Rudolf, Gabrielle; Lesca, Gaetan; Fluss, Joel Victor; Abbas, Mohamed |
2016 |
|
unige:127748 |
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci |
Liu, Chunyu; Kraja, Aldi T; Smith, Jennifer A; Brody, Jennifer A; ... Chasman, Daniel I |
2016 |
|
unige:89001 |
APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication |
Seplyarskiy, Vladimir B; Soldatov, Ruslan A; Popadin, Konstantin; Antonarakis, Stylianos; ... Nikolaev, Sergey Igorievich |
2016 |
|
unige:101070 |
Le pouvoir diagnostique de l'exome dans les troubles du développement et/ou les épilepsies : étude de 100 cas |
Ranza, Emmanuelle Nathalie |
2017 |
|
unige:127659 |
Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry |
Nandakumar, Priyanka; Lee, Dongwon; Richard, Melissa A; Tekola-Ayele, Fasil; ... Chakravarti, Aravinda |
2017 |
|
unige:107398 |
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma |
Mackay, Alan; Burford, Anna; Carvalho, Diana; Izquierdo, Elisa; ... Jones, Chris |
2017 |
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