Isabel Spier - Dissemin

Dissemin is shutting down on January 1st, 2025

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All papers authored by Isabel Spier

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2022 Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Teresa Ocaña, Marcos Díaz-Gay, Sebastià Franch-Expósito, Miriam Cuatrecasas, Sabela Carballal, Anael Lopez-Novo, Lorena Moreno, Guerau Fernàndez, Aranzazu Díaz de Bustamante, Sophia Peters and 26 other authors

Germline mutations inWNK2could be associated with serrated polyposis syndrome

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Anna K. Sommer, Iris B. A. W. te Paske, José Garcia-Pelaez, Andreas Laner

ORCID

, Elke Holinski-Feder, Verena Steinke-Lange, Sophia Peters, Laura Valle

ORCID

, Isabel Spier

ORCID

, David Huntsman, Carla Oliveira

ORCID

, Richarda M. de Voer, Nicoline Hoogerbrugge

ORCID

, Stefan Aretz, Gabriel Capella and 11 other authors

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD

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2019 Isabel Spier

ORCID

, Hartmut Engels, Sonja Stutte, Heiko Reutter, Enrika Bartels, Sarah Matos Meder, Matthias Begemann, Elisabeth Mangold, Thomas Eggermann

ORCID

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype

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Jonas Henn, Isabel Spier

ORCID

, Ronja S. Adam, Stefanie Holzapfel, Siegfried Uhlhaas, Katrin Kayser, Guido Plotz

ORCID

, Sophia Peters, Stefan Aretz

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

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