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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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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; ... Schrenzel, Jacques 2017
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A single amino acid substitution in the novel H7N9 influenza A virus NS1 protein increases CPSF30 binding and virulence Ayllon, Juan; Domingues, Patricia; Rajsbaum, Ricardo; Miorin, Lisa; ... García-Sastre, Adolfo 2014
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Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes Popadin, Konstantin; Nikolaev, Sergey Igorievich; Junier, Thomas; Baranova, Maria; Antonarakis, Stylianos 2013
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Structural basis for polyadenosine-RNA binding by Nab2 Zn fingers and its function in mRNA nuclear export Brockmann, Christoph; Soucek, Sharon; Kuhlmann, Sonja I.; Mills-Lujan, Katherine; ... Stewart, Murray 2012
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Identification of site-specific adaptations conferring increased neural cell tropism during human enterovirus 71 infection Cordey, Samuel; Petty Ii, Thomas John; Schibler, Manuel; Martinez, Yannick; ... Tapparel, Caroline 2012
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Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency Tirefort, Yordanka; Uhr, Mario R; Neerman Arbez, Marguerite; De Moerloose, Philippe 2012
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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis 2011
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Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations Ducamp, Sarah; Kannengiesser, Caroline; Touati, Mohamed; Garçon, Loïc; ... Grandchamp, Bernard 2011
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Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia Kannengiesser, Caroline; Sanchez, Mayka; Sweeney, Marion; Hetet, Gilles; ... May, Alison 2011
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COMT but not serotonin-related genes modulates the influence of childhood abuse on anger traits Perroud, Nader Ali; Jaussent, I.; Guillaume, Sébastien; Bellivier, F.; ... Courtet, P. 2010
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Residues in SRP9/14 essential for elongation arrest activity of the signal recognition particle define a positively charged functional domain on one side of the protein Mary, Camille; Scherrer, Anne Paule Marie; Huck, Laurent; Lakkaraju, Asvin Krishna Kumar; ... Strub, Katharina 2010
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Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome Harambat, Jerome; Fargue, Sonia; Acquaviva, Cecile; Gagnadoux, Marie-France; ... Cochat, Pierre 2010
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Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis 2010
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Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling Chen, Edwin; Beer, Philip A.; Godfrey, Anna L.; Ortmann, Christina A.; ... Green, Anthony R. 2010
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The cytotoxic T lymphocyte protease granzyme A cleaves and inactivates poly(adenosine 5'-diphosphate-ribose) polymerase-1 Zhu, Pengcheng; Martinvalet, Denis; Chowdhury, Dipanjan; Zhang, Dong; ... Lieberman, Judy 2009
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Polymorphisms in multidrug resistance-associated protein gene 4 is associated with outcome in childhood acute lymphoblastic leukemia Ansari Djaberi, Marc Georges; Sauty, Géraldine; Labuda, Malgorzata; Gagné, Vincent; ... Krajinovic, Maja 2009
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Sequence of a novel HLA-A2 allele in a haematopoietic stem cell donor of the international registry Kervaire, B.; Schmidt, A. H.; Villard, Jean; Tiercy, Jean-Marie 2009
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Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation Zdziarska, Joanna; Undas, Anetta; Basa, Joanna; Iwaniec, Teresa; ... Neerman Arbez, Marguerite 2009
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Modifier effects between regulatory and protein-coding variation Dimas, Antigone S.; Stranger, Barbara E.; Beazley, Claude; Finn, Robert D.; ... Dermitzakis, Emmanouil 2008
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