Resultats de la cerca - Agnès Bourillon

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  1. 1
    Variants of the<i>MATP</i>/<i>SLC45A2</i>gene are protective for melanoma in the French population

    Variants of the<i>MATP</i>/<i>SLC45A2</i>gene are protective for melanoma in the French population per Mickaël Guedj, Agnès Bourillon, Christophe Combadière, Mathieu P. Rodero, Philippe Dieudé, V. Descamps, N. Dupin, P. Wolkenstein, Philippe Aegerter, Célèste Lebbé, Nicole Basset‐Séguin, Bernard Prum, Philippe Saïag, Bernard Grandchamp, Nadem Soufir

    Publicat 2008
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  2. 2
    Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

    Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease per Érick Denamur, Anne‐Lise Delezoide, Corinne Alberti, Agnès Bourillon, Marie‐Claire Gubler, Raymonde Bouvier, Olivier Pascaud, Jacques Élion, Bernard Grandchamp, Laurence Michel‐Calemard, Pascale Missy, Isabelle Zaccaria, Hervé Le Nagard, Bénédicte Gérard, Chantal Loirat

    Publicat 2009
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  3. 3
    A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa

    A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa per Nadem Soufir, Cécile Ged, Agnès Bourillon, Frédéric Austerlitz, Cécile Chemin, Anne Stary, J. Armier, Danièle Pham, K. Khadir, J. Roume, S. Hadj‐Rabia, B. Bouadjar, Alain Taı̈eb, Hubert de Verneuil, Hakima Benchiki, Bernard Grandchamp, Alain Sarasin

    Publicat 2010
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  4. 4
    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease per Virgínia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, C. Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean‐François Benoist, Imen Dorboz, Martine Gilleron, Eric S. Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh, Norma B. Romero, Pierre Rustin, Hélène Ogier de Baulny, João A. Paulo, J. Wade Harper, Manuel Schiff

    Publicat 2016
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