Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains

por Wan, Rensheng, Schieck, Maximilian, Caballero-Oteyza, Andrés, Hofmann, Winfried, Cochino, Alexis Virgil, Shcherbina, Anna, Sherkat, Roya, Wache-Mainier, Clarisse, Fernandez, Anita, Sultan, Marc, Illig, Thomas, Grimbacher, Bodo, Proietti, Michele, Steinemann, Doris
Publicado 2022

Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases

por Wan, Rensheng, Fänder, Johannes, Zakaraia, Ia, Lee-Kirsch, Min Ae, Wolf, Christine, Lucas, Nadja, Olfe, Lisa Isabel, Hendrich, Corinna, Jonigk, Danny, Holzinger, Dirk, Steindor, Mathis, Schmidt, Gunnar, Davenport, Claudia, Klemann, Christian, Schwerk, Nicolaus, Griese, Matthias, Schlegelberger, Brigitte, Stehling, Florian, Happle, Christine, Auber, Bernd, Steinemann, Doris, Wetzke, Martin, von Hardenberg, Sandra
Publicado 2022