Search Results - Isabel Filges

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  1. 1

    Expanding the spectrum of SMAD3‐related phenotypes to agnathia‐otocephaly by Nicole Meier, Elisabeth Bruder, Peter Miny, Sevgi Tercanli, Isabel Filges

    Published in Molecular Genetics & Genomic Medicine (2020-04-01)
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  2. 2

    Arthrogryposis Multiplex Congenita (AMC) and counselling before and during pregnancy: a questionnaire study by Arda Arduç, Julia Slootbeek, Johanna I. P. de Vries, Maria B. Tan-Sindhunata, Femke Stoelinga, Bonita Sawatzky, Isabel Filges, Ingeborg H. Linskens, for the Arthrogryposis and Pregnancy Study Group

    Published in Orphanet Journal of Rare Diseases (2025-07-01)
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  3. 3

    Microarray-based maps of copy-number variant regions in European and sub-Saharan populations. by Christian Vogler, Leo Gschwind, Benno Röthlisberger, Andreas Huber, Isabel Filges, Peter Miny, Bianca Auschra, Attila Stetak, Philippe Demougin, Vanja Vukojevic, Iris-Tatjana Kolassa, Thomas Elbert, Dominique J-F de Quervain, Andreas Papassotiropoulos

    Published in PLoS ONE (2010-12-01)
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  4. 4

    Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency) by Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N. Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André B.P. van Kuilenburg, Claudia Kemper, Erin E. West, Gabor Szinnai, Martina Huemer

    Published in Molecular Genetics and Metabolism Reports (2021-03-01)
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  5. 5

    The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture by Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P. Phan, Camille Derderian, Marcelo Chávez, Nancie A. Mooney, Janos Demeter, Mohammad Ovais Aziz-Zanjani, Ivon Cusco, Marta Codina, Núria Martínez-Gil, Diana Valverde, Carlos Solarat, Ange-Line Buel, Cristel Thauvin-Robinet, Elisabeth Steichen, Isabel Filges, Pascal Joset, Julie De Geyter, Krishna Vaidyanathan, Tynan P. Gardner, Michinori Toriyama, Edward M. Marcotte, Kevin Drew, Elle C. Roberson, Peter K. Jackson, Jeremy F. Reiter, Eduardo F. Tizzano, John B. Wallingford

    Published in Nature Communications (2025-07-01)
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