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21 |
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature
Enthalten in Journal of clinical immunology Bd. 44, 15.12.2023, Nr. 1, date:1.2024: 1-15
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22 |
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
Enthalten in Orphanet journal of rare diseases Bd. 16, 12.11.2021, Nr. 1, date:12.2021: 1-13
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23 |
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Enthalten in Nature Bd. 623, 8.11.2023, Nr. 7988, date:11.2023: 803-813
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24 |
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature
Enthalten in Journal of clinical immunology Bd. 44, 16.1.2024, Nr. 1, date:1.2024: 1
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25 |
Correction to: The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity
Enthalten in Journal of clinical immunology Bd. 42, 9.2.2022, Nr. 3, date:4.2022: 499
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26 |
Der klinische Versorgungspfad zur multiprofessionellen Versorgung seltener Erkrankungen in der Pädiatrie – Ergebnisse aus dem Projekt TRANSLATE-NAMSE
Enthalten in Monatsschrift Kinderheilkunde Bd. 170, 3.12.2021, Nr. 1, date:1.2022: 52-60
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27 |
Gentherapien bei monogenen Erkrankungen
Enthalten in Pädiatrie Bd. 36, 19.2.2024, Nr. 1, date:2.2024: 40-46
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28 |
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie
Enthalten in Journal of clinical immunology Bd. 40, 26.5.2020, Nr. 5, date:7.2020: 708-717
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29 |
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency
Enthalten in Journal of clinical immunology Bd. 41, 2.6.2021, Nr. 7, date:10.2021: 1536-1548
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30 |
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Enthalten in Nature genetics Bd. 56, 22.7.2024, Nr. 8, date:8.2024: 1644-1653
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