Hasil Pencarian - Sara Seneca

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  1. 1
    Clinical Heterogeneity in <i>MT-ATP6</i> Pathogenic Variants: Same Genotype—Different Onset

    Clinical Heterogeneity in <i>MT-ATP6</i> Pathogenic Variants: Same Genotype—Different Onset oleh Sara Capiau, Joél Smet, Boel De Paepe, Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore, Hedwig Stepman, Sara Seneca, Arnaud Vanlander

    Diterbitkan 2022-01-01
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  2. 2
    A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome.

    A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome. oleh Kim Vancampenhout, Ben Caljon, Claudia Spits, Katrien Stouffs, An Jonckheere, Linda De Meirleir, Willy Lissens, Arnaud Vanlander, Joél Smet, Boel De Paepe, Rudy Van Coster, Sara Seneca

    Diterbitkan 2014-01-01
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  3. 3
    Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers

    Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers oleh Sofie Joris, Philippe Giron, Catharina Olsen, Sara Seneca, Alexander Gheldof, Shula Staessens, Rajendra Bahadur Shahi, Sylvia De Brakeleer, Erik Teugels, Jacques De Grève, Frederik J. Hes

    Diterbitkan 2024-06-01
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  4. 4
    Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

    Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease oleh Julie Harvengt, Catherine Wanty, Boel De Paepe, Christine Sempoux, Nicole Revencu, Joél Smet, Rudy Van Coster, Willy Lissens, Sara Seneca, Laurent Weekers, Etienne Sokal, François-Guillaume Debray

    Diterbitkan 2014-01-01
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  5. 5
    Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells

    Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells oleh Filippo Zambelli, Joke Mertens, Dominika Dziedzicka, Johan Sterckx, Christina Markouli, Alexander Keller, Philippe Tropel, Laura Jung, Stephane Viville, Hilde Van de Velde, Mieke Geens, Sara Seneca, Karen Sermon, Claudia Spits

    Diterbitkan 2018-07-01
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  6. 6
    Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight

    Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight oleh Joke Mertens, Florence Belva, Aafke P. A. van Montfoort, Marius Regin, Filippo Zambelli, Sara Seneca, Edouard Couvreu de Deckersberg, Maryse Bonduelle, Herman Tournaye, Katrien Stouffs, Kurt Barbé, Hubert J. M. Smeets, Hilde Van de Velde, Karen Sermon, Christophe Blockeel, Claudia Spits

    Diterbitkan 2024-02-01
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  7. 7
    Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

    Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers oleh Joséphine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes, Sofie Symoens, Wim Coucke, Valérie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, Lut Van Laer, Wim Wuyts, Anniek Corveleyn, Kris Van Den Bogaert, Catherine Rydlewski, Françoise Wilkin, Marie Ravoet, Elodie Fastré, Arnaud Capron, Nathalie Monique Vandevelde

    Diterbitkan 2021-07-01
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  8. 8
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? oleh Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann

    Diterbitkan 2018-07-01
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