Hasil Pencarian - Léna Damaj

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  1. 1
    Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy

    Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy oleh Cyrille Robert, Laurent Pasquier, David Cohen, Mélanie Fradin, Roberto Canitano, Léna Damaj, Sylvie Odent, Sylvie Tordjman

    Diterbitkan 2017-03-01
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  2. 2
    Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family

    Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family oleh Katell Peoc'h, Léna Damaj, Romain Pelletier, Charles Lefèvre, Christèle Dubourg, Marie-Christine Denis, Claude Bendavid, Sylvie Odent, Caroline Moreau

    Diterbitkan 2020-03-01
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  3. 3
    Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients

    Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients oleh Sophie Denamur, Guy Touati, Stéphane Debelleix, Léna Damaj, Magalie Barth, Marine Tardieu, Magali Gorce, Pierre Broué, Didier Lacombe, François Labarthe

    Diterbitkan 2021-02-01
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  4. 4
    Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

    Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing oleh Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Lena Damaj, Alinoë Lavillaureix

    Diterbitkan 2020-09-01
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  5. 5
    Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

    Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France oleh Charles R. Lefèvre, François Labarthe, Diane Dufour, Caroline Moreau, Marie Faoucher, Paul Rollier, Jean-Baptiste Arnoux, Marine Tardieu, Léna Damaj, Claude Bendavid, Anne-Frédérique Dessein, Cécile Acquaviva-Bourdain, David Cheillan

    Diterbitkan 2023-02-01
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  6. 6
    Betaine anhydrous in homocystinuria: results from the RoCH registry

    Betaine anhydrous in homocystinuria: results from the RoCH registry oleh Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet, Léna Damaj, Dries Dobbelaere, Claire Gay, Sylvie Hiéronimus, Virginie Levrat, François Maillot

    Diterbitkan 2019-03-01
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  7. 7
    Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

    Three-Country Snapshot of Ornithine Transcarbamylase Deficiency oleh Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen

    Diterbitkan 2022-10-01
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