E-LIB Suche - Ergebnisse für: Dmytrus, Jasmin

1

TREX tetramer disruption alters RNA processing necessary fo..:

Werren, Elizabeth A. ; LaForce, Geneva R. ; Srivastava, Anshika...
Nature Communications. 15 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

2

Novel PGM3 mutation in two siblings with combined immunodef..:

Fallahi, Mazdak ; Jamee, Mahnaz ; Enayat, Javad...
Allergy, Asthma & Clinical Immunology. 18 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

3

Curation and expansion of Human Phenotype Ontology for defi..:

Haimel, Matthias ; Pazmandi, Julia ; Heredia, Raúl Jiménez...
Journal of Allergy and Clinical Immunology. 149 (2022) 1 - p. 369-378 , 2022

Link: https://doi.org/10.1016/..

4

Genomic Spectrum and Phenotypic Heterogeneity of Human IL-2..:

Cagdas, Deniz ; Mayr, Daniel ; Baris, Safa...
Journal of Clinical Immunology. 41 (2021) 6 - p. 1272-1290 , 2021

Link: https://doi.org/10.1007/..

5

CD70 Deficiency Associated With Chronic Epstein-Barr Virus ..:

Krüger, Renate ; Martin, Emmanuel ; Dmytrus, Jasmin...
Frontiers in Immunology. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

6

F-BAR domain only protein 1 (FCHO1) deficiency is a novel c..:

Calzoni, Enrica ; Platt, Craig D. ; Keles, Sevgi...
Journal of Allergy and Clinical Immunology. 143 (2019) 6 - p. 2317-2321.e12 , 2019

Link: https://doi.org/10.1016/..

7

Unreported Missense Mutation in the Dimerization Domain of ..:

Göschl, Lisa ; Winkler, Stefan ; Dmytrus, Jasmin...
Journal of Clinical Immunology. 40 (2019) 1 - p. 223-226 , 2019

Link: https://doi.org/10.1007/..

8

Intravenous administration of scAAV9-Hexb normalizes lifesp..:

Niemir, Natalia ; Rouvière, Laura ; Besse, Aurore...
Human Molecular Genetics. 27 (2018) 6 - p. 954-968 , 2018

Link: https://doi.org/10.1093/..

9

Targeted mutation screening of 292 candidate genes in 38 ch..:

Kager, Leo ; Jimenez Heredia, Raúl ; Hirschmugl, Tatjana...
British Journal of Haematology. 182 (2018) 2 - p. 251-258 , 2018

Link: https://doi.org/10.1111/..

10

VCF.Filter: interactive prioritization of disease-linked ge..:

Müller, Heiko ; Jimenez-Heredia, Raul ; Krolo, Ana...
Nucleic Acids Research. 45 (2017) W1 - p. W567-W572 , 2017

Link: https://doi.org/10.1093/..

11

Progressive neuropathology in the spinal cord of a mouse mo..:

Cooper, Jonathan ; Dmytrus, Jasmin ; Sri, Sarmi...
Molecular Genetics and Metabolism. 117 (2016) 2 - p. S36 , 2016

Link: https://doi.org/10.1016/..

12

Short-Term In-Vitro Expansion Improves Monitoring and Allow..:

Geyeregger, René ; Freimüller, Christine ; Stevanovic, Stefan...
PLoS ONE. 8 (2013) 4 - p. e59592 , 2013

Link: https://doi.org/10.1371/..

13

Germline biallelic mutation affecting the transcription fac..:

Shahin, Tala ; Kuehn, Hye Sun ; Shoeb, Mohamed R...
10.1126/sciimmunol.abe3981. , 2023

Link: http://hdl.handle.net/10..

14

Curation and expansion of Human Phenotype Ontology for defi..:

Haimel, Matthias ; Pazmandi, Julia ; Heredia, Raul Jimenez...
https://research.rug.nl/en/publications/4dd47724-007e-4a79-8673-f23af763ff15. , 2022

Link: https://hdl.handle.net/1..

15

Curation and expansion of Human Phenotype Ontology for defi..:

Haimel, Matthias ; Pazmandi, Julia ; Heredia, Raúl Jiménez...
Haimel , M , Pazmandi , J , Heredia , R J , Dmytrus , J , Bal , S K , Zoghi , S , van Daele , P , Briggs , T A , Wouters , C , Bader-Meunier , B , Aeschlimann , F A , Caorsi , R , Eleftheriou , D , Hoppenreijs , E , Salzer , E , Bakhtiar , S , Derfalvi , B , Saettini , F , Kusters , M A A , Elfeky , R , Trück , J , Rivière , J G , van der Burg , M , Gattorno , M , Seidel , M G , Burns , S , Warnatz , K , Hauck , F , Brogan , P , Gilmour , K C , Schuetz , C , Simon , A , Bock , C , Hambleton , S , de Vries , E , Robinson , P N , van Gijn , M & Boztug , K 2022 , ' Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity ' , Journal of Allergy and Clinical Immunology , vol. 149 , no. 1 , pp. 369-378 . https://doi.org/10.1016/j.jaci.2021.04.033. , 2022

Link: https://pure.eur.nl/en/p..