Risultati della ricerca - Ann‐Charlotte Thuresson

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  1. 1
    Clinical variability of the 22q11.2 duplication syndrome

    Clinical variability of the 22q11.2 duplication syndrome di Christian Wentzel, Maria Fernström, Ylva Öhrner, Göran Annerén, Ann‐Charlotte Thuresson

    Pubblicazione 2008
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  2. 2
    A 54-kDa Fragment of the Poly(A)-specific Ribonuclease Is an Oligomeric, Processive, and Cap-interacting Poly(A)-specific 3′ Exonuclease

    A 54-kDa Fragment of the Poly(A)-specific Ribonuclease Is an Oligomeric, Processive, and Cap-interacting Poly(A)-specific 3′ Exonuclease di Javier Martı́nez, Yan‐Guo Ren, Ann‐Charlotte Thuresson, Ulf Hellman, Jonas Åström, Anders Virtanen

    Pubblicazione 2000
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  3. 3
    Mutations in<i>HECW2</i>are associated with intellectual disability and epilepsy

    Mutations in<i>HECW2</i>are associated with intellectual disability and epilepsy di Jonatan Halvardson, Jin Zhao, Ammar Zaghlool, Christian Wentzel, Patrik Georgii‐Hemming, Else Månsson, Helena Ederth Sävmarker, Göran Brandberg, Cecilia Zander, Ann‐Charlotte Thuresson, Lars Feuk

    Pubblicazione 2016
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  4. 4
    Exome sequencing reveals <i>NAA15</i> and <i>PUF60</i> as candidate genes associated with intellectual disability

    Exome sequencing reveals <i>NAA15</i> and <i>PUF60</i> as candidate genes associated with intellectual disability di Jin Zhao, Jonatan Halvardson, Cecilia Zander, Ammar Zaghlool, Patrik Georgii‐Hemming, Else Månsson, Göran Brandberg, Helena Ederth Sävmarker, Carina Frykholm, Ekaterina Kuchinskaya, Ann‐Charlotte Thuresson, Lars Feuk

    Pubblicazione 2017
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  5. 5
    1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

    1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency di Natália D. Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa do Carmo Lisboa Cardenas, Heloísa B. Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos A. Bacino, Bruno Delobel, Paul A. James, Ann‐Charlotte Thuresson, Göran Annerén, Sérgio D.J. Pena

    Pubblicazione 2016
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  6. 6
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature di Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    Pubblicazione 2013
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  7. 7
    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 di Gaëlle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie‐Ange Delrue, Laëtitia Duboscq-Bidot, Ann‐Charlotte Thuresson, Bregje W.M. van Bon, Dorothée Cailley, Caroline Rooryck, Agathe Paubel, Corinne Métay, A. Dusser, Laurent Pasquier, Mylène Béri, Céline Bonnet, Sylvie Jaillard, Christèle Dubourg, Bassim Tou, Marie‐Pierre Quéré, Cecilia Soussi‐Zander, Annick Toutain, Didier Lacombe, Benoı̂t Arveiler, Bert B.A. de Vries, Philippe Jonveaux, Albert David, Cédric Le Caignec

    Pubblicazione 2012
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