Hasil Pencarian - Pascal Joset

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  1. 1
    Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)

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

    Diterbitkan 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

    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 oleh Dennis Kraemer, Silvia Azzarello-Burri, Katharina Steindl, Paranchai Boonsawat, Markus Zweier, Konstantin J. Dedes, Pascal Joset, Daniel Fink, Anita Rauch

    Diterbitkan 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

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

    Diterbitkan 2023-05-01
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  4. 4
    MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

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

    Diterbitkan 2017-08-01
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  5. 5
    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

    Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. oleh 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

    Diterbitkan 2017-01-01
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  6. 6
    Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders

    Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders oleh 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

    Diterbitkan 2022-07-01
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  7. 7
    A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

    A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder oleh Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra

    Diterbitkan 2023-01-01
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