Resultados da busca - Apolline Imbard

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  1. 1
    Neural Tube Defects, Folic Acid and Methylation

    Neural Tube Defects, Folic Acid and Methylation por Apolline Imbard, Jean‐François Benoist, Henk J. Blom

    Publicado em 2013
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  2. 2
    <i>NF1</i> Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience

    <i>NF1</i> Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience por Audrey Sabbagh, Éric Pasmant, Apolline Imbard, Armelle Luscan, Magali Soares, Hélène Blanché, Ingrid Laurendeau, S. Ferkal, Michel Vidaud, S. Pinson, Christine Bellanné‐Chantelot, Dominique Vidaud, Béatrice Parfait, P. Wolkenstein

    Publicado em 2013
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  3. 3
    Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism

    Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism por Soraia Poloni, Sandra Leistner‐Segal, Isabel Cristina Bandeira, Vânia D’Almeida, Carolina Fischinger Moura de Souza, Poli Mara Spritzer, Kamila Castro, Tássia Tonon, Tatiéle Nalin, Apolline Imbard, Henk J. Blom, Ida Vanessa Döederlein Schwartz

    Publicado em 2014
    Obter o texto integral
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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 por 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

    Publicado em 2016
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  5. 5
    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

    Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability por Yair Anikster, Tobias B. Haack, Thierry Vilboux, Ben Pode‐Shakked, Beat Thöny, Nan Shen, Virgínia Guarani, Thomas Meißner, Ertan Mayatepek, Friedrich K. Trefz, Dina Marek‐Yagel, Aurora Martı́nez, Edward L. Huttlin, João A. Paulo, Riccardo Berutti, Jean‐François Benoist, Apolline Imbard, Imen Dorboz, Gali Heimer, Yuval E. Landau, Limor Ziv-Strasser, May Christine V. Malicdan, Corinne Gemperle-Britschgi, Kirsten Cremer, Hartmut Engels, David Meili, Irene Keller, Rémy Bruggmann, Tim M. Strom, Thomas Meitinger, James C. Mullikin, Gerard Schwartz, Bruria Ben‐Zeev, William A. Gahl, J. Wade Harper, Nenad Blau, Georg F. Hoffmann, Holger Prokisch, Thomas Opladen, Manuel Schiff

    Publicado em 2017
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  6. 6
    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

    Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency por Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero, Signe Mosegaard, Veronika Boczonadi, Lavinija Mataković, Alice Veauville‐Merllié, Caterina Terrile, Thomas Schwarzmayr, Tobias B. Haack, Mari Auranen, Piero Leone, Michele Galluccio, Apolline Imbard, Purificacion Gutierrez-Ríos, Johan Palmfeldt, Elisabeth Graf, Christine Vianey‐Saban, Marcus Oppenheim, Manuel Schiff, Samia Pichard, Odile Rigal, Angela Pyle, Patrick F. Chinnery, Vassiliki Konstantopoulou, Dorothea Möslinger, René G. Feichtinger, Beril Talim, Haluk Topaloğlu, Turgay Coşkun, Şafak Güçer, Annalisa Botta, Elena Pegoraro, Adriana Malena, Lodovica Vergani, Daniela Mazzà, Marcella Zollino, Daniele Ghezzi, Cécile Acquaviva, Tiina Tyni, Avihu Boneh, Thomas Meitinger, Tim M. Strom, Niels Gregersen, Johannes A. Mayr, Rita Horváth, Maria Barile, Holger Prokisch

    Publicado em 2016
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