Search Results - Girodon-Boulandet, Emmanuelle

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  1. 1
    Screening practices for mutations in the CFTR gene ABCC7

    Screening practices for mutations in the CFTR gene ABCC7 by Girodon-Boulandet, Emmanuelle, Cazeneuve, Cécile, Goossens, Michel

    Published in Human mutation
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  2. 2
    Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis

    Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis by Dermine, Solène, Masson, Emmanuelle, Girodon-Boulandet, Emmanuelle, Bienvenu, Thierry, Férec, Claude, Lévy, Philippe, Rebours, Vinciane

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  3. 3
    Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling

    Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling by COSTA, C., FRANCES, A. M., LETOURNEAU, S., GIRODON‐BOULANDET, E., GOOSSENS, M.

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  4. 4
    Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever

    Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever by Cazeneuve, Cécile, Ajrapetyan, Hasmik, Papin, Stéphanie, Roudot-Thoraval, Françoise, Geneviève, David, Mndjoyan, Elizaveta, Papazian, Marina, Sarkisian, Ashot, Babloyan, Ara, Boissier, Brigitte, Duquesnoy, Philippe, Kouyoumdjian, Jean-Claude, Girodon-Boulandet, Emmanuelle, Grateau, Gilles, Sarkisian, Tamara, Amselem, Serge

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  5. 5
    Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations

    Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations by Cazeneuve, Cécile, Hovannesyan, Zaruhi, Geneviève, David, Hayrapetyan, Hasmik, Papin, Stéphanie, Girodon‐Boulandet, Emmanuelle, Boissier, Brigitte, Feingold, Josué, Atayan, Karine, Sarkisian, Tamara, Amselem, Serge

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  6. 6
    CFTR mutations relevance on pancreatitis outcome: genotype-phenotype correlation and impact of associated factors

    CFTR mutations relevance on pancreatitis outcome: genotype-phenotype correlation and impact of associated factors by Dermine, Solène, Girodon-Boulandet, Emmanuelle, Calame, Paul, Vullierme, Marie Pierre, Bienvenu, Thierry, Ruszniewski, Philippe, Levy, Philippe, Rebours, Vinciane

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  7. 7
    Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele

    Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele by ABRAMOWICZ, MARC J, DESSARS, BARBARA, SEVENS, CLAUDE, GOOSSENS, MICHEL, BOULANDET, EMMANUELLE GIRODON

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  8. 8
    Identification of MEFV ‐Independent Modifying Genetic Factors for Familial Mediterranean Fever

    Identification of MEFV ‐Independent Modifying Genetic Factors for Familial Mediterranean Fever by Cazeneuve, Cecile, Ajrapetyan, Hasmik, Papin, Stephanie, Roudot‐Thoraval, Francoise, Genevieve, David, Mndjoyan, Elizaveta, Papazian, Marina, Sarkisian, Ashot, Babloyan, Ara, Boissier, Brigitte, Duquesnoy, Philippe, Kouyoumdjian, Jean‐Claude, Girodon‐Boulandet, Emmanuelle, Grateau, Gilles, Sarkisian, Tamara, Amselem, Serge

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  9. 9
    Familial Mediterranean fever among patients from Karabakh and the diagnostic value ofMEFVgene analysis in all classically affected populations

    Familial Mediterranean fever among patients from Karabakh and the diagnostic value ofMEFVgene analysis in all classically affected populations by Cazeneuve, Cécile, Hovannesyan, Zaruhi, Geneviève, David, Hayrapetyan, Hasmik, Papin, Stéphanie, Girodon-Boulandet, Emmanuelle, Boissier, Brigitte, Feingold, Josué, Atayan, Karine, Sarkisian, Tamara, Amselem, Serge

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