Хайлтын үр дүнгүүд - Thierry Frébourg
- 83-н 1 - 20 үр дүнгүүдийг харуулж байна
- Дараагийн хуудас руу очих
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The Challenge for the Next Generation of Medical Geneticists -н Thierry Frébourg
Хэвлэсэн 2014Revisão -
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Cancer risks from germline p53 mutations. -н Thierry Frébourg, Stephen Friend
Хэвлэсэн 1992Revisão -
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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 -н Daniela Di Giacomo, Pascaline Gaildrat, Anna Abulí, Julie Abdat, Thierry Frébourg, Mario Tosi, Alexandra Martins
Хэвлэсэн 2013Artigo -
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Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments -н Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad, Isabelle Tournier, Dominique Stoppa‐Lyonnet, Thierry Frébourg, Mario Tosi
Хэвлэсэн 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... -н Karine Ancolio, Cécile Dumanchin, Hélène Barelli, Jean‐Marie Warter, Alexis Brice, Dominique Campion, Thierry Frébourg, Frédéric Checler
Хэвлэсэн 1999Artigo -
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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools -н Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert‐Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins
Хэвлэсэн 2016Artigo -
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Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements -н Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, André Blavier, Arnaud Lefebvre, Hélène Dauchel, Thierry Frébourg, Pascaline Gaildrat, Alexandra Martins
Хэвлэсэн 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 -н Thierry Frébourg, E Bercoff, Nicolas Manchon, J Sénant, Jean-Pierre Basuyau, Pascal Breton, A. Janvresse, P Brunelle, J Bourreille
Хэвлэсэн 1988Artigo -
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Metastatic colorectal cancer KRAS genotyping in routine practice: results and pitfalls -н Aude Lamy, France Blanchard, Florence Le Pessot, Richard Sesboüé, Frédéric Di Fiore, Jessie Bossut, Elodie Fiant, Thierry Frébourg, Jean‐Christophe Sabourin
Хэвлэсэн 2011Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
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