Hasil Pencarian - Benoit Arveiler

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  1. 1
    Syndrome de Costello: à propos d'une observation

    Syndrome de Costello: à propos d'une observation oleh Mariam Tajir, Patricia Fergelot, Gwenaelle Lancelot, Benoit Arveiler, Siham Chafai Elalaoui, Didier Lacombe, Abdelaziz Sefiani

    Diterbitkan 2012-07-01
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  2. 2
    Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

    Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS oleh Angèle Tingaud‐Sequeira, Aurélien Trimouille, Sandrine Marlin, Estelle Lopez, Marie Berenguer, Souad Gherbi, Benoit Arveiler, Didier Lacombe, Caroline Rooryck

    Diterbitkan 2020-10-01
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  3. 3
    A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

    A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies oleh Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean-Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler

    Diterbitkan 2021-04-01
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  4. 4
    The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

    The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism oleh Hugo Fournier, Marie Hasdenteufel, Constance Garrouteigt, Mathieu Perie, Antoine Gliksohn, Béatrice Jouanne, Smail Hadj-Rabia, Benoit Arveiler, Fanny Morice-Picard, Bruno Quintard

    Diterbitkan 2024-01-01
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  5. 5
    The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

    The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism oleh David J. Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Graeme C. Black, Benoît Arveiler, Panagiotis I. Sergouniotis

    Diterbitkan 2024-09-01
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  6. 6
    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism oleh Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Benoît Arveiler, Graeme C. Black, Panagiotis I. Sergouniotis

    Diterbitkan 2022-07-01
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  7. 7
    Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

    Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination oleh Aurélien Trimouille, Florent Marguet, Fanny Sauvestre, Eulalie Lasseaux, Fanny Pelluard, Marie-Laure Martin-Négrier, Claudio Plaisant, Caroline Rooryck, Didier Lacombe, Benoît Arveiler, Odile Boespflug-Tanguy, Sophie Naudion, Annie Laquerrière

    Diterbitkan 2020-04-01
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  8. 8
    Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

    Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes oleh Fenja Markus, Chloé Angelini, Aurelien Trimouille, Gabrielle Rudolf, Gaetan Lesca, Cyril Goizet, Eulalie Lasseaux, Benoit Arveiler, Marjon vanSlegtenhorst, Alice S. Brooks, Rami Abou Jamra, Georg‐Christoph Korenke, John Neidhardt, Marta Owczarek‐Lipska

    Diterbitkan 2020-09-01
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  9. 9
    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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  10. 10
    Functional Characterization of Splice Variants in the Diagnosis of Albinism

    Functional Characterization of Splice Variants in the Diagnosis of Albinism oleh Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj-Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler

    Diterbitkan 2024-08-01
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