Search Results - Depasse, Fanny

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  1. 1
    Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

    Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families by Van Cauwenbergh, Caroline, Coppieters, Frauke, Roels, Dimitri, De Jaegere, Sarah, Flipts, Helena, De Zaeytijd, Julie, Walraedt, Sophie, Claes, Charlotte, Fransen, Erik, Van Camp, Guy, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Leroy, Bart P, De Baere, Elfride

    Published in PloS one
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  2. 2
    Three cases of molecularly confirmed Knobloch syndrome

    Three cases of molecularly confirmed Knobloch syndrome by Balikova, Irina, Sanak, Nuri Serdal, Fanny, Depasse, Smits, Guillaume, Soblet, Julie, de Baere, Elfride, Cordonnier, Monique

    Published in Ophthalmic genetics
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  3. 3
    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma by Désir, Julie, Sznajer, Yves, Depasse, Fanny, Roulez, Françoise, Schrooyen, Marc, Meire, Françoise, Abramowicz, Marc

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  4. 4
    Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

    Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants by Bauwens, Miriam, De Man, Vincent, Audo, Isabelle, Balikova, Irina, Zein, Wadih M., Smirnov, Vasily, Held, Sebastian, Vermeer, Sascha, Loos, Elke, Jacob, Julie, Casteels, Ingele, Désir, Julie, Depasse, Fanny, Van de Sompele, Stijn, Van Heetvelde, Mattias, De Bruyne, Marieke, Andrieu, Camille, Condroyer, Christel, Antonio, Aline, Hufnagel, Robert, Carvalho, Ana Luísa, Marques, João Pedro, Zeitz, Christina, De Baere, Elfride, Damme, Markus

    Published in Clinical genetics
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  5. 5
    Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7

    Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7 by Van Schil, Kristof, Karlstetter, Marcus, Aslanidis, Alexander, Dannhausen, Katharina, Azam, Maleeha, Qamar, Raheel, Leroy, Bart P., Depasse, Fanny, Langmann, Thomas, De Baere, Elfride

    Published in Scientific reports
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  6. 6
    Mapping Labels in the Human Developing Visual System and the Evolution of Binocular Vision

    Mapping Labels in the Human Developing Visual System and the Evolution of Binocular Vision by Lambot, Marie-Alexandra, Depasse, Fanny, Noel, Jean-Christophe, Vanderhaeghen, Pierre

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  7. 7
    Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

    Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes by Meire, Françoise, Delpierre, Isabelle, Brachet, Cecile, Roulez, Françoise, Van Nechel, Christian, Depasse, Fanny, Christophe, Catherine, Menten, Björn, De Baere, Elfride

    Published in Molecular vision
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  8. 8
    Three cases of molecularly confirmed Knobloch syndrome

    Three cases of molecularly confirmed Knobloch syndrome by Balikova, Irina, Sanak, Nuri Serdal, Fanny, Depasse, Smits, Guillaume, Soblet, Julie, de Baere, Elfride, Cordonnier, Monique

    Published in Ophthalmic Genetics
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  9. 9
    Large external quality assessment survey on thrombin generation with CAT: further evidence for the usefulness of normalisation with an external reference plasma

    Large external quality assessment survey on thrombin generation with CAT: further evidence for the usefulness of normalisation with an external reference plasma by Perrin, Julien, Depasse, François, Lecompte, Thomas

    Published in Thrombosis research
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