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 TitleAuthors / EditorsDate
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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
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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
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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
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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
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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
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Quantifying the fitness cost of HIV-1 drug resistance mutations through phylodynamics Kühnert, Denise; Kouyos, Roger; Shirreff, George; Pečerska, Jūlija; ... Bonhoeffer, Sebastian 2018
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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
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NBEA: Developmental disease gene with early generalized epilepsy phenotypes Mulhern, Maureen S; Stumpel, Constance; Stong, Nicholas; Brunner, Han G; ... Sands, Tristan T 2018
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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
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Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome Dorval, Guillaume; Gribouval, Olivier; Martinez-Barquero, Vanesa; Machuca, Eduardo; ... Boyer, Olivia 2018
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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
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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
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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
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Not5-dependent co-translational assembly of Ada2 and Spt20 is essential for functional integrity of SAGA. Kassem, Sari; Villanyi, Zoltan; Collart, Martine 2017
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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
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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
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CRISPR/Cas9 Genome Editing in Embryonic Stem Cells Andrey, Guillaume; Spielmann, Malte 2017
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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
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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
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU Korff, Christian; Bottani, Armand 2017
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Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies Masnada, Silvia; Hedrich, Ulrike B S; Gardella, Elena; Korff, Christian; ... Rubboli, Guido 2017
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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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Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma Von Bueren, André 2017
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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
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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
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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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Droplet digital PCR to investigate quasi-species at codons 119 and 275 of the A(H1N1)pdm09 neuraminidase during zanamivir and oseltamivir therapies Abed, Yacine; Carbonneau, Julie; L'Huillier, Arnaud; Kaiser, Laurent; Boivin, Guy 2017
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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
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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Epidermal growth factor receptor overexpression is common and not correlated to gene copy number in ependymoma Friedrich, Carsten; Von Bueren, André; Kolevatova, Larissa; Bernreuther, Christian; ... Glatzel, Markus 2016
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Large-scale inference of conjunctive Bayesian networks Montazeri, Hesam; Kuipers, Jack; Kouyos, Roger; Böni, Jürg; ... Beerenwinkel, Niko 2016
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Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators 2016
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La mutation de la presse écrite à l'ère du numérique Amez-Droz, Philippe René 2015
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An interplay between the p38 MAPK pathway and AUBPs regulates c-fos mRNA stability during mitogenic stimulation Degese, Maria Sol; Tanos, Tamara; Naipauer, Julian; Gingerich, Tim; ... Coso, Omar A 2015
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Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency Ciancanelli, Michael J; Huang, Sarah X L; Luthra, Priya; Garner, Hannah; ... Casanova, Jean-Laurent 2015
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Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases Yang, Jialiang; Huang, Tao; Petralia, Francesca; Long, Quan; ... Mobbs, Charles V 2015
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State transition7-dependent phosphorylation is modulated by changing environmental conditions, and its absence triggers remodeling of photosynthetic protein complexes Bergner, Sonja Verena; Scholz, Martin; Trompelt, Kerstin; Barth, Johannes; ... Hippler, Michael 2015
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Molecular Basis of the Rapamycin Insensitivity of Target Of Rapamycin Complex 2 Gaubitz, Christl; Oliveira, Taiana M; Prouteau, Manoel; Leitner, Alexander; ... Loewith, Robbie Joséph 2015
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy Korff, Christian 2015
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Prothrombin G20210A mutation and lower extremity peripheral arterial disease: a systematic review and meta-analysis Vazquez, F; Rodger, M; Carrier, M; Le Gal, G; ... Gandara, E 2015
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Small RNAs reveal two target sites of the RNA-maturation factor Mbb1 in the chloroplast of Chlamydomonas Loizeau, Karen; Qu, Yujiao; Depp, Sébastien; Fiechter, Vincent; ... Goldschmidt-Clermont, Michel P. 2014
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A pathway for repair of NAD(P)H in plants Colinas Martinez, Maite Felicitas; Shaw, Holly Victoria; Loubery, Sylvain Philippe; Kaufmann, Markus; ... Fitzpatrick, Thérésa Bridget 2014
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Identification of genes preventing transgenerational transmission of stress-induced epigenetic states Iwasaki, Mayumi; Paszkowski, Jerzy 2014
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Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure Bouameur, Jamal-Eddine; Favre, Bertrand; Fontao, Lionel; Lingasamy, Prakash; ... Borradori, Luca 2014
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Thrombophilia in patients with retinal vein occlusion: a retrospective analysis Risse, Franziska; Frank, Rolf Dario; Weinberger, Andreas 2014
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Systematic lipidomic analysis of yeast protein kinase and phosphatase mutants reveals novel insights into regulation of lipid homeostasis da Silveira Dos Santos, Aline Xavier; Riezman, Isabelle; Aguilera-Romero, Maria Auxiliadora; David, Fabrice Pierre André; ... Riezman, Howard 2014
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Epilepsy: old syndromes, new genes Weckhuysen, Sarah; Korff, Christian 2014
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Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children Ozen, Seza; Demirkaya, Erkan; Amaryan, Gayane; Koné-Paut, Isabelle; ... Gattorno, Marco 2014
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Eggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; ... Baas, Frank 2014
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Connexins in lymphatic vessel physiology and disease Meens, Merlijn; Sabine, Amélie; Petrova, Tatiana V; Kwak, Brenda 2014
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