Show items per page
Elements: 403
Page 1 on 21
 TitleAuthors / EditorsDate
add to browser selection
Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder Varvagiannis, Konstantinos; Hanquinet, Sylviane; Billieux, M; De Luca, R; ... Fokstuen, Siv 2018
add to browser selection
Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing STEVANT, Isabelle; Neirijnck, Yasmine; Borel, Christelle; Escoffier Breancon, Jessica; ... Nef, Serge 2018
add to browser selection
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy Ranza, Emmanuelle Nathalie; Garcia-Tarodo, Stephanie; Varvagiannis, Konstantinos; Guipponi, Michel; ... Korff, Christian 2017
add to browser selection
Germline PMS2 and somatic POLEexo mutations cause hypermutability of the leading DNA strand in Biallelic Mismatch Repair Deficiency syndrome brain tumors Andrianova, Maria A; Chetan, Ghati Kasturirangan; Sibin, Madathan Kandi; Mckee, Thomas Alexander; ... Nikolaev, Sergey Igorievich 2017
add to browser selection
Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells Liu, Yansheng; Borel, Christelle; Li, Li; Müller, Torsten; ... Aebersold, Ruedi 2017
add to browser selection
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in theGPR98Locus on 5q14.3 Guo, Tingwei; Repetto, Gabriela M; McDonald McGinn, Donna M; Chung, Jonathan H; ... Morrow, Bernice E 2017
add to browser selection
No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients Guipponi, Michel; Santoni, Federico; Schneider, Maude; Gehrig, C; ... Antonarakis, Stylianos 2017
add to browser selection
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
add to browser selection
HGVS Recommendations for the Description of Sequence Variants: 2016 Update den Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; ... Taschner, Peter E M 2016
add to browser selection
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing Ferreira, Pedro G; Oti, Martin; Barann, Matthias; Wieland, Thomas; ... Sammeth, Michael 2016
add to browser selection
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli Emilia; ... Sharp, Andrew James 2016
add to browser selection
Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree Makrythanasis, Periklis; Guipponi, Michel; Santoni, Federico; Zaki, Maha; ... Antonarakis, Stylianos 2016
add to browser selection
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
add to browser selection
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
add to browser selection
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma Bonilla Bustillo, Ximena; Parmentier, Laurent; King, Bryan; Bezrukov, Fedor; ... Nikolaev, Sergey Igorievich 2016
add to browser selection
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation Nicastro, Nicolas; Ranza, Emmanuelle Nathalie; Antonarakis, Stylianos; Horvath, Judit 2016
add to browser selection
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy Assoum, Mirna; Philippe, Christophe; Isidor, Bertrand; Perrin, Laurence; ... Thevenon, Julien 2016
add to browser selection
The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype Dieudonne, François-Xavier; O’Connor, Patrick B. F.; Jaquier-Gubler, Pascale; Yasrebi, Haleh; ... Curran, Joseph 2015
add to browser selection
CATCHing putative causative variants in consanguineous families Santoni, Federico; Makrythanasis, Periklis; Antonarakis, Stylianos 2015
add to browser selection
HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation Rosa, Annachiara; Chande, Ajit; Ziglio, Serena; De Sanctis, Veronica; ... Pizzato, Massimo 2015
<< previous | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 ...20 | 21 |