E-LIB Suche - Ergebnisse für: Auber, Bernd

1

Current genetic diagnostics in inborn errors of immunity:

von Hardenberg, Sandra ; Klefenz, Isabel ; Steinemann, Doris...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

2

Germline variants in patients developing second malignant n..:

Junk, Stefanie V. ; Förster, Alisa ; Schmidt, Gunnar...
Leukemia. 38 (2024) 4 - p. 887-892 , 2024

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

3

Immunohistochemical marker profiles for the differentiation..:

Warm, Henriette L. ; Kandt, Leonie D. ; Schaumann, Nora...
Human Pathology. 148 (2024) - p. 7-13 , 2024

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

4

Systematic genetic analysis of pediatric patients with auto..:

Poker, Yvonne ; von Hardenberg, Sandra ; Hofmann, Winfried...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

5

Prevalence of pericardial effusion in autosomal dominant po..:

Jost, Johanna Sophia ; Kaireit, Till Frederik ; Auber, Bernd...
Clinical Kidney Journal. 16 (2023) 11 - p. 2041-2047 , 2023

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

6

Parallel deletion and duplication at 7q11.23 in a silent ca..:

Lühmann, Jonathan Lukas ; Schmidt, Gunnar ; Auber, Bernd...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1849-1857 , 2023

Link: https://doi.org/10.1002/..

7

Prevalence of HSPB6 gene variants in peripartum cardiomyopa..:

Pfeffer, Tobias J. ; Auber, Bernd ; Pabst, Brigitte...
International Journal of Cardiology. 379 (2023) - p. 96-99 , 2023

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

8

Ciliary Ultrastructure Assessed by Transmission Electron Mi..:

Staar, Ben O. ; Hegermann, Jan ; Auber, Bernd...
Cells. 12 (2023) 22 - p. 2651 , 2023

Link: https://doi.org/10.3390/..

9

Variants in FGF10 cause early onset of severe childhood int..:

Schütz, Katharina ; Schmidt, Axel ; Schwerk, Nicolaus...
Pediatric Pulmonology. 58 (2023) 11 - p. 3095-3105 , 2023

Link: https://doi.org/10.1002/..

10

A holistic approach to maximise diagnostic output in trio e..:

von Hardenberg, Sandra ; Wallaschek, Hannah ; Du, Chen..
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

11

Diagnostic genomic sequencing in critically ill children:

Auber, Bernd ; Schmidt, Gunnar ; Du, Chen.
Medizinische Genetik. 35 (2023) 2 - p. 105-112 , 2023

Link: https://doi.org/10.1515/..

12

Differenzierte Herangehensweise und Testung seltener geneti..:

Bachmann, Nadine ; Auber, Bernd ; Das, Anibh...
Monatsschrift Kinderheilkunde. , 2023

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

13

Rare germline variants in POLE and POLD1 encoding the catal..:

Weber, Christine A. M. ; Krönke, Nicole ; Volk, Valery...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

14

Creation of a structured molecular genomics report for Germ..:

Stellmach, Caroline ; Sass, Julian ; Auber, Bernd...
Journal of the American Medical Informatics Association. 30 (2023) 6 - p. 1179-1189 , 2023

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

15

Phenotypic spectrum in recessive STING-associated vasculopa..:

Wan, Rensheng ; Fänder, Johannes ; Zakaraia, Ia...
Frontiers in Immunology. 13 (2022) - p. , 2022

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