نتائج البحث - 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 حسب Silvia Kalantari, Isabel Filges

    منشور في 2020
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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 حسب Isabel Filges, Sevgi Tercanli, Judith G. Hall

    منشور في 2019
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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 حسب Isabel Filges, Irina Manokhina, María S. Peñaherrera, Deborah E. McFadden, K. Louie, Ekaterina Nosova, Jan M. Friedman, Wendy P. Robinson

    منشور في 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 حسب 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

    منشور في 2019
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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 حسب 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

    منشور في 2018
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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 حسب 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

    منشور في 2022
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