Hasil Pencarian - Julie Steffann
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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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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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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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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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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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