Hasil Pencarian - Mathias Ruiz

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  1. 1
    Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests

    Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests oleh Olivier Guillaud, Jérôme Dumortier, Eduardo Couchonnal-Bedoya, Mathias Ruiz

    Diterbitkan 2023-01-01
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  2. 2
    Hepatocyte proteomes reveal the role of protein disulfide isomerase 4 in alpha 1-antitrypsin deficiency

    Hepatocyte proteomes reveal the role of protein disulfide isomerase 4 in alpha 1-antitrypsin deficiency oleh Esra Karatas, Anne-Aurélie Raymond, Céline Leon, Jean-William Dupuy, Sylvaine Di-Tommaso, Nathalie Senant, Sophie Collardeau-Frachon, Mathias Ruiz, Alain Lachaux, Frédéric Saltel, Marion Bouchecareilh

    Diterbitkan 2021-08-01
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  3. 3
    ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.

    ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency. oleh Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh

    Diterbitkan 2017-01-01
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  4. 4
    Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

    Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis oleh Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Fréderic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broué, Alexandre Fabre, Karine Mention-Mulliez, Jérôme Bouligand, Emmanuel Jacquemin, Emmanuel Gonzales

    Diterbitkan 2022-05-01
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  5. 5
    HOPE Mitigates Ischemia-Reperfusion Injury in Ex-Situ Split Grafts: A Comparative Study With Living Donation in Pediatric Liver Transplantation

    HOPE Mitigates Ischemia-Reperfusion Injury in Ex-Situ Split Grafts: A Comparative Study With Living Donation in Pediatric Liver Transplantation oleh Guillaume Rossignol, Guillaume Rossignol, Guillaume Rossignol, Guillaume Rossignol, Xavier Muller, Xavier Muller, Xavier Muller, Mathias Ruiz, Sophie Collardeau-Frachon, Natacha Boulanger, Celia Depaulis, Teresa Antonini, Remi Dubois, Kayvan Mohkam, Kayvan Mohkam, Kayvan Mohkam, Jean-Yves Mabrut, Jean-Yves Mabrut, Jean-Yves Mabrut

    Diterbitkan 2024-06-01
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  6. 6
    ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

    ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid oleh Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fischler, Emmanuel Gonzales, Anne Davit-Spraul, Sophie Laplanche, Emmanuel Jacquemin

    Diterbitkan 2023-12-01
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