نتائج البحث - Thierry Frébourg
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The Challenge for the Next Generation of Medical Geneticists حسب Thierry Frébourg
منشور في 2014Revisão -
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Cancer risks from germline p53 mutations. حسب Thierry Frébourg, Stephen Friend
منشور في 1992Revisão -
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Early onset hereditary hemochromatosis resulting from a novel <i>TFR2</i> gene nonsense mutation (R105X) in two siblings of north French descent حسب Gérald Le Gac, F. Mons, Sandrine Jacolot, Virginie Scotet, Claude Férec, Thierry Frébourg
منشور في 2004Artigo -
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Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions حسب Bojan Mirkovic, Claudine Laurent, Marc-Antoine Podlipski, Thierry Frébourg, Doron Cohen, Priscille Gérardin
منشور في 2016Revisão -
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Functional Analysis of a Large set of <i>BRCA2</i> exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements حسب Daniela Di Giacomo, Pascaline Gaildrat, Anna Abulí, Julie Abdat, Thierry Frébourg, Mario Tosi, Alexandra Martins
منشور في 2013Artigo -
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Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage حسب Yasmine Zerdoumi, Raphaël Lanos, Sabine Raad, Jean‐Michel Flaman, Gaëlle Bougeard, Thierry Frébourg, Isabelle Tournier
منشور في 2017Artigo -
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Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments حسب Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad, Isabelle Tournier, Dominique Stoppa‐Lyonnet, Thierry Frébourg, Mario Tosi
منشور في 2002Artigo -
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Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715 → Met βAPP-770 mutation responsible for probable early-onset Alzheimer’s disease... حسب Karine Ancolio, Cécile Dumanchin, Hélène Barelli, Jean‐Marie Warter, Alexis Brice, Dominique Campion, Thierry Frébourg, Frédéric Checler
منشور في 1999Artigo -
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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools حسب Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert‐Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins
منشور في 2016Artigo -
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Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements حسب Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, André Blavier, Arnaud Lefebvre, Hélène Dauchel, Thierry Frébourg, Pascaline Gaildrat, Alexandra Martins
منشور في 2020Artigo -
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The evaluation of CA 19-9 antigen level in the early detection of pancreatic cancer: A prospective study of 866 patients حسب Thierry Frébourg, E Bercoff, Nicolas Manchon, J Sénant, Jean-Pierre Basuyau, Pascal Breton, A. Janvresse, P Brunelle, J Bourreille
منشور في 1988Artigo -
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Metastatic colorectal cancer KRAS genotyping in routine practice: results and pitfalls حسب Aude Lamy, France Blanchard, Florence Le Pessot, Richard Sesboüé, Frédéric Di Fiore, Jessie Bossut, Elodie Fiant, Thierry Frébourg, Jean‐Christophe Sabourin
منشور في 2011Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
Mutation
Internal medicine
Cancer
Oncology
Pathology
Disease
Germline mutation
Cancer research
Breast cancer
Colorectal cancer
Computational biology
Phenotype
Alzheimer's disease
DNA mismatch repair
Exon
Missense mutation
Exome sequencing
Germline
Molecular biology
Bioinformatics
DNA repair
Environmental health
Exome
Gene duplication
Genotype
Immunology