Hasil Pencarian - Julie Steffann

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  1. 1
    Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia

    Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia oleh Maleha S. Alsafri, Fabienne Charbit-Henrion, Florence Lacaille, Emmanuelle Bourrat, Julie Steffann, Smail Hadj-Rabia

    Diterbitkan 2020-06-01
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  2. 2
    Expanding the clinical spectrum of MTTF mutations

    Expanding the clinical spectrum of MTTF mutations oleh Giulia Barcia, Zahra Assouline, Alessandra Pennisi, Julie Steffann, Nathalie Boddaert, Cyril Gitiaux, Agnès Rötig, Jean-Paul Bonnefont, Arnold Munnich

    Diterbitkan 2019-12-01
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  3. 3
    Data from Artificial Models of Mitochondrial DNA Disorders Are Not Always Applicable to Humans

    Data from Artificial Models of Mitochondrial DNA Disorders Are Not Always Applicable to Humans oleh Julie Steffann, Nadine Gigarel, David C. Samuels, Sophie Monnot, Roxana Borghese, Laetitia Hesters, Nelly Frydman, Philippe Burlet, René Frydman, Alexandra Benachi, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont

    Diterbitkan 2014-05-01
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  4. 4
    Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

    Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy oleh Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev

    Diterbitkan 2023-02-01
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  5. 5
    Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia

    Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia oleh Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann

    Diterbitkan 2020-12-01
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  6. 6
    Primary mitochondrial disorders and mimics: Insights from a large French cohort

    Primary mitochondrial disorders and mimics: Insights from a large French cohort oleh Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio

    Diterbitkan 2024-06-01
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