Showing 1 - 2 results of 2 for search 'Geraldine Van Winckel', query time: 0.02s Refine Results
  1. 1
    Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant

    Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant by Roberto Ricciardiello, Giulia Forleo, Lina Cipolla, Geraldine van Winckel, Caterina Marconi, Thierry Nouspikel, Thanos D. Halazonetis, Omar Zgheib, Simone Sabbioneda

    Published 2024-01-01
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  2. 2
    De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

    De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures by Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga

    Published 2021-10-01
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