Search Results - Plante‐Bordeneuve, Pauline

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  1. 1
    Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy

    Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy by Plante‐Bordeneuve, Pauline, Boussion, Simon, Rama, Mélanie, Brunelle, Perrine, Thuillier, Caroline, Vanlerberghe, Clémence, Caumes, Roseline, Colson, Cindy, Ait‐Yahya, Emilie, Ghoumid, Jamal, Smol, Thomas

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  2. 2
    Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

    Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report by Baille, Guillaume, Geoffre, Nicolas, Wissocq, Anna, Planté-Bordeneuve, Pauline, Mutez, Eugénie, Huin, Vincent

    Published in BMC neurology
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  3. 3
    NONO-related X-linked intellectual disability syndrome: further clinical and molecular delineation

    NONO-related X-linked intellectual disability syndrome: further clinical and molecular delineation by Planté-Bordeneuve, Pauline, Boussion, Simon, Caumes, Roseline, Rama, Mélanie, Thuillier, Caroline, Boute-Benejean, Odile, Vincent-Delorme, Catherine, Ait-Yahya, Emilie, Delobel, Bruno, Ghoumid, Jamal, Smol, Thomas

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