Search Results - Dubois‐Teklali, Fanny

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  1. 1
    Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report

    Exome Sequencing Detects Uniparental Disomy of Chromosome 4 Revealing a LARP7 Pathogenic Variant Responsible for Alazami Syndrome: A Case Report by Amélie, Buisine-Sbraggia, Julien, Thevenon, Kevin, Yauy, Marie-Emmanuelle, Naud, Jean-Marc, Costa, Fanny, Dubois-Teklali, Marjolaine, Willems, Klaus, Dieterich, Véronique, Satre, Charles, Coutton, Pauline, Le Tanno

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  2. 2
    Place of magistral preparations to continue the treatment if the drug is commercially stopped worldwide? A case report of a 10-year-old child with subacute sclerosing panencephalitis (SSPE) requiring inosiplex

    Place of magistral preparations to continue the treatment if the drug is commercially stopped worldwide? A case report of a 10-year-old child with subacute sclerosing panencephalit... by Le Cras, Renan, Mazet, Roseline, Dubois-Teklali, Fanny, Sabourdy, Cécile, Chanoine, Sébastien, Lehmann, Audrey, Morin, Agathe, Leenhardt, Julien, Durand, Marjorie, Desruet, Marie-Dominique, Bedouch, Pierrick

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  3. 3
    Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

    Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy by Guey, Stéphanie, Hervé, Dominique, Kossorotoff, Manoëlle, Ha, Guillaume, Aloui, Chaker, Bergametti, Françoise, Arnould, Minh, Guenou, Hind, Hadjadj, Jessica, Dubois Teklali, Fanny, Riant, Florence, Balligand, Jean-Luc, Uzan, Georges, Villoutreix, Bruno O, Tournier-Lasserve, Elisabeth

    Published in Human genomics
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  4. 4
    Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies

    Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies by Bosson, Caroline, Devillard, Françoise, Satre, Véronique, Dieterich, Klaus, Ray, Pierre F., Morand, Béatrice, Dubois-Teklali, Fanny, Vieville, Gaëlle, Andrieux, Joris, Brouillet, Sophie, Amblard, Florence, Jouk, Pierre-Simon, Coutton, Charles

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  5. 5
    Clustering syncope in a young male with temporal lobe seizures

    Clustering syncope in a young male with temporal lobe seizures by Dubois‐Teklali, Fanny, Nguyen‐Morel, Marie‐Ange, Douchin, Stephanie, Vercueil, Laurent

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  6. 6
    Anatomo-functional study of the cerebellum in working memory in children treated for medulloblastoma

    Anatomo-functional study of the cerebellum in working memory in children treated for medulloblastoma by Hoang, Duc Ha, Pagnier, Anne, Cousin, Emilie, Guichardet, Karine, Schiff, Isabelle, Icher, Celine, Dilharreguy, Bixente, Grill, Jacques, Frappaz, Didier, Berger, Claire, Schneider, Fabien, Dubois-Teklali, Fanny, Krainik, Alexandre

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  7. 7
    Anatomo-functional study of the cerebellum in working memory in children treated for medulloblastoma

    Anatomo-functional study of the cerebellum in working memory in children treated for medulloblastoma by Hoang, Duc Ha, Pagnier, Anne, Cousin, Emilie, Guichardet, Karine, Schiff, Isabelle, Icher, Celine, Dilharreguy, Bixente, Grill, Jacques, Frappaz, Didier, Berger, Claire, Schneider, Fabien, Dubois-Teklali, Fanny, Krainik, Alexandre

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  8. 8
    Clustering syncope in a young male with temporal lobe seizures

    Clustering syncope in a young male with temporal lobe seizures by Dubois-Teklali, Fanny, Nguyen-Morel, Marie-Ange, Vadot, Wilfried, Douchin, Stephanie, Defaye, Pascal, Vercueil, Laurent

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  9. 9
    Place of magistral preparations to continue the treatment if the drug is commercially stopped worldwide? A case report of a 10-year-old child with subacute sclerosing panencephalitis (SSPE) requiring inosiplex

    Place of magistral preparations to continue the treatment if the drug is commercially stopped worldwide? A case report of a 10-year-old child with subacute sclerosing panencephalit... by Le Cras, Renan, Mazet, Roseline, Dubois-Teklali, Fanny, Sabourdy, Cécile, Chanoine, Sébastien, Lehmann, Audrey, Morin, Agathe, Leenhardt, Julien, Durand, Marjorie, Desruet, Marie-Dominique, Bedouch, Pierrick

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