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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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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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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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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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