Search Results - Pascal Joset

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  1. 1

    Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene) by Reza Asadollahi, Christian Britschgi, Pascal Joset, Beatrice Oneda, Detlev Schindler, Urs R. Meier, Anita Rauch

    Published in Molecular Genetics & Genomic Medicine (2020-10-01)
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  2. 2

    Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort by Dennis Kraemer, Silvia Azzarello-Burri, Katharina Steindl, Paranchai Boonsawat, Markus Zweier, Konstantin J. Dedes, Pascal Joset, Daniel Fink, Anita Rauch

    Published in Swiss Medical Weekly (2019-08-01)
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  3. 3

    The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies by Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch

    Published in Molecular Genetics & Genomic Medicine (2023-05-01)
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  4. 4

    MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile by Ralph Fingerhut, Pascal Joset, Niels J. Rupp, Martin Girsberger, Susanna H.M. Sluka, Theresia Herget, Silvia Miranda Azzarello-Burri, Anita Rauch, Matthias Baumgartner

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  5. 5

    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. by Lucia Abela, Ronen Spiegel, Lisa M Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas Luke Simmons

    Published in PLoS ONE (2017-01-01)
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  6. 6

    Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders by Paranchai Boonsawat, Anselm H. C. Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset, Dennis Kraemer, Angela Bahr, Ivan Ivanovski, Elena M. Cabello, Michael Papik, Markus Zweier, Beatrice Oneda, Pietro Sirleto, Tilo Burkhardt, Heinrich Sticht, Anita Rauch

    Published in npj Genomic Medicine (2022-07-01)
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  7. 7

    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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