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Clonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic Spread Marinari, Eliana; Dutoit Vallotton, Valérie; Nikolaev, Sergey Igorievich; Lobrinus, Johannes Alexander; ... Migliorini, Denis 2021
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; ... Scheffer, Ingrid E 2021
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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis Tønne, Elin; Due-Tønnessen, Bernt Johan; Mero, Inger-Lise; Wiig, Ulrikke Straume; ... Heimdal, Ketil Riddervold 2021
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The conserved transcriptional regulator CdnL is required for metabolic homeostasis and morphogenesis in Caulobacter Woldemeskel, Selamawit Abi; Daitch, Allison K; Alvarez, Laura; Panis, Gaël; ... Goley, Erin D 2020
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects Zhao, Yingjie; Diacou, Alexander; Johnston, H Richard; Musfee, Fadi I; ... Morrow, Bernice E 2020
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Protection against XY gonadal sex reversal by a variant region on mouse chromosome 13 Livermore, Catherine; Simon, Michelle; Reeves, Richard; Stevant, Isabelle; ... Greenfield, Andy 2020
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UVR8-mediated inhibition of shade avoidance involves HFR1 stabilization in Arabidopsis Tavridou, Eleni; Schmid-Siegert, Emanuel; Fankhauser, Christian; Ulm, Roman 2020
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De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; ... Campeau, Philippe M 2020
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Integrative and quantitative view of the CtrA regulatory network in a stalked budding bacterium Leicht, Oliver; van Teeseling, Muriel C F; Panis, Gaël; Reif, Celine; ... Thanbichler, Martin 2020
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Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors Bakker, Mark K; Ruigrok, Ynte M 2020
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The DEAD-box RNA helicase CshA is required for fatty acid homeostasis in Staphylococcus aureus Khemici, Vanessa; Prados, Julien; Petrignani, Bianca; Di Nolfi, Benjamin; ... Linder, Patrick 2020
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease Skene, Nathan G; Liu, Zijing; Brueggeman, Leo; Arenas, Ernest; ... Sullivan, Patrick F 2020
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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome) Carminho Amaro Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; ... Bally, Julien 2020
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LARS2-Perrault syndrome: a new case report and literature review Carminho Amaro Rodrigues, Maria Teresa; Klee, Philippe; Laurent, Sacha; Guipponi, Michel; ... Giacobino, Ariane 2020
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SCN8A heterozygous variants are associated with anoxic-epileptic seizures Ranza, Emmanuelle Nathalie; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; ... Korff, Christian 2020
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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Ansar, Muhammad; Ranza, Emmanuelle Nathalie; Shetty, Madhur; Paracha, Sohail A; ... Antonarakis, Stylianos 2020
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Identification of an endoglin variant associated with HCV-related liver fibrosis progression by next-generation sequencing About, Frédégonde; Bibert, Stéphanie; Jouanguy, Emmanuelle; Nalpas, Bertrand; ... Abel, Laurent 2019
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Expression estimation and eQTL mapping for HLA genes with a personalized pipeline Aguiar, Vitor; César, Jônatas; Delaneau, Olivier; Dermitzakis, Emmanouil; Meyer, Diogo 2019
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A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure Sung, Yun Ju; de Las Fuentes, Lisa; Winkler, Thomas W; Chasman, Daniel I; ... Morrison, Alanna C 2019
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Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31 Wang, Heming; Nandakumar, Priyanka; Tekola-Ayele, Fasil; Tayo, Bamidele O; ... Zhu, Xiaofeng 2019
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