Search Results - Soussi Zander, Cecilia

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  1. 1
    Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay

    Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay by Thuresson, Ann‐Charlotte, Brazina, Jan, Akram, Talia, Albrecht, Julia, Dahl, Niklas, Soussi Zander, Cecilia, Caldecott, Keith W.

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  2. 2
    Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

    Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability by Thuresson, Ann‐Charlotte, Soussi Zander, Cecilia, Zhao, Jin J., Halvardson, Jonatan, Maqbool, Khurram, Månsson, Else, Stenninger, Eric, Holmlund, Ulrika, Öhrner, Ylva, Feuk, Lars

    Published in Clinical genetics
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  3. 3
    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

    Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures by Thierry, Gaelle, Bénéteau, Claire, Pichon, Olivier, Flori, Elisabeth, Isidor, Bertrand, Popelard, Françoise, Delrue, Marie-Ange, Duboscq-Bidot, Laetitia, Thuresson, Ann-Charlotte, van Bon, Bregje W.M., Cailley, Dorothée, Rooryck, Caroline, Paubel, Agathe, Metay, Corinne, Dusser, Anne, Pasquier, Laurent, Béri, Mylène, Bonnet, Céline, Jaillard, Sylvie, Dubourg, Christèle, Tou, Bassim, Quéré, Marie-Pierre, Soussi-Zander, Cecilia, Toutain, Annick, Lacombe, Didier, Arveiler, Benoit, de Vries, Bert B.A., Jonveaux, Philippe, David, Albert, Le Caignec, Cédric

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  4. 4
    Changes in mortality and causes of death in the Swedish Down syndrome population

    Changes in mortality and causes of death in the Swedish Down syndrome population by Englund, Annika, Jonsson, Björn, Zander, Cecilia Soussi, Gustafsson, Jan, Annerén, Göran

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  5. 5
    Proximal Deletion 12q with a New Insight to Growth Retardation

    Proximal Deletion 12q with a New Insight to Growth Retardation by Sobol, Maria, Thuresson, Ann-Charlotte, Palmberg, Nathalie, Soussi Zander, Cecilia

    Published in Molecular syndromology
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  6. 6
    Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

    Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development by Thuresson, A‐C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton Smith, J., Soussi Zander, C.

    Published in Clinical genetics
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  7. 7
    Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content

    Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content by Takahashi, Junko, Fujigasaki, Hiroto, Zander, Cecilia, El Hachimi, Khalid H., Stevanin, Giovanni, Dürr, Alexandra, Lebre, Anne‐Sophie, Yvert, Gaël, Trottier, Yvon, Thé, Hugues de, Hauw, Jean‐Jacques, Duyckaerts, Charles, Brice, Alexis

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