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AuthID: R-00J-5PY
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TITLE: Characterization of the Clinical and Immunological Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations Full Text
AUTHORS: 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; ...More
PUBLISHED: 2020, SOURCE: Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference in JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 40, ISSUE: SUPPL 1
AUTHORS: 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; ...More
PUBLISHED: 2020, SOURCE: Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference in JOURNAL OF CLINICAL IMMUNOLOGY, VOLUME: 40, ISSUE: SUPPL 1
INDEXED IN: 
WOS
WOS2
TITLE: Polymerase delta deficiency causes syndromic immunodeficiency with replicative stress
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 129, ISSUE: 10
AUTHORS: 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; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 129, ISSUE: 10
INDEXED IN: 
Scopus WOS
Scopus WOS