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TÍTULO: Characterization of the Clinical and Immunological Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations  Full Text
AUTORES: Tiziana Lorenzini; Manfred Fliegauf; Nils Klammer; Natalie Frede; Michele Proietti; Alla Bulashevska; Nadezhda Camacho Ordonez; Markku Varjosalo; Matias Kinnunen; Esther de Vries; Jos W M van der Meer; Rohan Ameratunga; Chaim M Roifman; Yael D Schejter; Robin Kobbe; Timo Hautala; Faranaz Atschekzei; Reinhold E Schmidt; Claudia Schroeder; Polina Stepensky; Bella Shadur; Luis A Pedroza; Michiel van der Flier; Monica Martinez Gallo; Luis Ignacio Gonzalez Granado; Luis M Allende; Anna Shcherbina; Natalia Kuzmenko; Victoria Zakharova; Joao Farela Neves; Peter Svec; Ute Fischer; Winnie Ip; Oliver Bartsch; Safa Baris; Christoph Klein; Raif Geha; Janet Chou; Mohammed Alosaimi; Lauren Weintraub; Kaan Boztug; Tatjana Hirschmugl; Maria Marluce D Dos Santos Vilela; Dirk Holzinger; Maximilian Seidl; Vassilios Lougaris; Alessandro Plebani; Laia Alsina; Monica Piquer Gibert; Angela Deya Martinez; Charlotte A Slade; Asghar Aghamohammadi; Hassan Abolhassani; Lennart Hammarstrom; Outi Kuismin; Merja Helminen; Hana Lango Allen; James E Thaventhiran; Alexandra F Freeman; Matthew Cook; Shahrzad Bakhtiar; Mette Christiansen; Charlotte Cunningham Rundles; Niraj C Patel; William Rae; Tim Niehues; Nina Brauer; Jaana Syrjanen; Mikko R J Seppanen; Siobhan O Burns; Paul Tuijnenburg; Taco W Kuijpers; Klaus Warnatz; Bodo Grimbacher; ...Mais
PUBLICAÇÃO: 2020, FONTE: Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference in JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 40, NÚMERO: SUPPL 1
INDEXADO EM: WOS
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TÍTULO: Polymerase delta deficiency causes syndromic immunodeficiency with replicative stress
AUTORES: Cecilia Dominguez Conde; Oezlem Yuece Petronczki; Safa Baris; Katharina L Willmann; Enrico Girardi; Elisabeth Salzer; Stefan Weitzer; Rico Chandra Ardy; Ana Krolo; Hanna Ijspeert; Ayca Kiykim; Elif Karakoc Aydiner; Elisabeth Forster Waldl; Leo Kager; Winfried F Pickl; Giulio Superti Furga; Javier Martinez; Joanna I Loizou; Ahmet Ozen; Mirjam van der Burg; Kaan Boztug; ...Mais
PUBLICAÇÃO: 2019, FONTE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 129, NÚMERO: 10
INDEXADO EM: Scopus WOS