Ohcanbohtosat - Isabel Filges

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  1. 1
    ‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

    ‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects Dahkki Silvia Kalantari, Isabel Filges

    Almmustuhtton 2020
    Viečča ollesdeavstta Viečča ollesdeavstta
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  2. 2
    Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management

    Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management Dahkki Isabel Filges, Sevgi Tercanli, Judith G. Hall

    Almmustuhtton 2019
    Viečča ollesdeavstta
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  3. 3
    Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants

    Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants Dahkki Isabel Filges, Irina Manokhina, María S. Peñaherrera, Deborah E. McFadden, K. Louie, Ekaterina Nosova, Jan M. Friedman, Wendy P. Robinson

    Almmustuhtton 2014
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  4. 4
    Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries

    Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries Dahkki Nicole Meier, Elisabeth Bruder, Olav Lapaire, Irène Hoesli, Anjeung Kang, Jürgen Hench, Sylvia Hoeller, Julie De Geyter, Peter Miny, Karl Heinimann, Rabih Chaoui, Sevgi Tercanli, Isabel Filges

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
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  5. 5
    Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish

    Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish Dahkki Madeline Louise Reilly, Marijn Stokman, Virginie Magry, Marc Jeanpierre, Marine Alves, Mohammadjavad Paydar, Jacqueline R. Hellinga, Marion Delous, Daniel Pouly, Marion Failler, Jéléna Martinovic, Laurence Lœuillet, Brigitte Leroy, Julia Tantau, J. Roume, Cheryl Y. Gregory‐Evans, Xianghong Shan, Isabel Filges, John S. Allingham, Benjamin H. Kwok, Sophie Saunier, Rachel H. Giles, Alexandre Benmerah

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
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  6. 6
    Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

    Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology Dahkki Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina, Tony Roscioli, Umber Agarwal, Shagun Aggarwal, Claire Bénéteau, Pilar Cacheiro, Leigh Carmody, Sophie Collardeau‐Frachon, Esther Dempsey, Andreas Dufke, Michael H. Duyzend, Mirna el Ghosh, Jessica L. Giordano, Ragnhild Glad, Ieva Grīnfelde, Dominic Gabriel Iliescu, Markus S. Ladewig, Monica Muñoz‐Torres, Marzia Pollazzon, Francesca Clementina Radio, Carlota Rodó, Raquel Gouveia Silva, Damian Smedley, Jagadish Chandrabose Sundaramurthi, Sabrina Toro, Irene Valenzuela, Nicole Vasilevsky, Ronald J. Wapner, Roni Zemet, Melissa Haendel, Peter N. Robinson

    Almmustuhtton 2022
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