Hasil Pencarian - Corinne Stoetzel

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  1. 1
    VaRank: a simple and powerful tool for ranking genetic variants

    VaRank: a simple and powerful tool for ranking genetic variants oleh Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller

    Diterbitkan 2015-03-01
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  2. 2
    Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

    Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family rais... oleh Raphaëlle Goussot, MD, Megana Prasad, MD, Corinne Stoetzel, MD, Cédric Lenormand, MD, PhD, Hélène Dollfus, MD, PhD, Dan Lipsker, MD, PhD

    Diterbitkan 2017-03-01
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  3. 3
    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

    Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome oleh Elise Schaefer, Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Hélène Dollfus, Jean Muller, Jean Muller

    Diterbitkan 2019-01-01
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  4. 4
    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

    A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi oleh Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R. Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus

    Diterbitkan 2016-11-01
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  5. 5
    Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

    Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation oleh Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller

    Diterbitkan 2020-08-01
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  6. 6
    Involvement of MET/TWIST/APC Combination or the Potential Role of Ossification Factors in Pediatric High-Grade Osteosarcoma Oncogenesis

    Involvement of MET/TWIST/APC Combination or the Potential Role of Ossification Factors in Pediatric High-Grade Osteosarcoma Oncogenesis oleh Natacha Entz-Werle, Thomas Lavaux, Nadia Metzger, Corinne Stoetzel, Christelle Lasthaus, Perrine Marec, Chantal Kalita, Laurence Brugieres, Helene Pacquement, Claudine Schmitt, Marie-Dominique Tabone, Jean-Claude Gentet, Patrick Lutz, Annie Babin, Pierre Oudet, Marie Pierre Gaub, Fabienne Perrin-Schmitt

    Diterbitkan 2007-08-01
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  7. 7
    WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

    WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects oleh Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

    Diterbitkan 2023-05-01
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  8. 8
    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

    Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning oleh Virginie Laugel-Haushalter, Supawich Morkmued, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Hélène Dollfus, Karen Niederreither, Karen Niederreither, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Patimaporn Pungchanchaikul

    Diterbitkan 2018-09-01
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  9. 9
    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

    A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta oleh Virginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, Elise Schaefer, Corinne Stoetzel, Véronique Geoffroy, Yves Alembik, Naji Kharouf, Naji Kharouf, Mathilde Huckert, Pauline Hamm, Joseph Hemmerlé, Joseph Hemmerlé, Marie-Cécile Manière, Marie-Cécile Manière, Sylvie Friant, Hélène Dollfus, Hélène Dollfus, Hélène Dollfus, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan

    Diterbitkan 2019-05-01
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  10. 10
    Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

    Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta oleh Barbara Gasse, Megana Prasad, Sidney Delgado, Mathilde Huckert, Mathilde Huckert, Marzena Kawczynski, Marzena Kawczynski, Annelyse Garret-Bernardin, Annelyse Garret-Bernardin, Serena Lopez-Cazaux, Isabelle Bailleul-Forestier, Marie-Cécile Manière, Marie-Cécile Manière, Corinne Stoetzel, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Agnès Bloch-Zupan, Jean-Yves Sire

    Diterbitkan 2017-06-01
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  11. 11
    Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

    Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress oleh Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus

    Diterbitkan 2020-07-01
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