E-LIB Suche - Ergebnisse für: Rump, Andreas

1

Surface water in Lower Saxony: A reservoir for multidrug-re..:

Cimen, Cansu ; Noster, Janina ; Stelzer, Yvonne...
One Health. 17 (2023) - p. 100606 , 2023

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

2

Polygenic risk scores indicate extreme ages at onset of bre..:

Borde, Julika ; Laitman, Yael ; Blümcke, Britta...
BMC Cancer. 22 (2022) 1 - p. , 2022

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

3

Solving the genetic aetiology of hereditary gastrointestina..:

Sommer, Anna K. ; te Paske, Iris B.A.W. ; Garcia-Pelaez, José...
European Journal of Medical Genetics. 65 (2022) 5 - p. 104475 , 2022

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

4

The constitutional gain‐of‐function variant p.Glu1099Lys in..:

Popp, Bernt ; Brugger, Melanie ; Poschmann, Sibylle...
Clinical Genetics. 103 (2022) 2 - p. 226-230 , 2022

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

5

Prevalence of Cancer Predisposition Germline Variants in Ma..:

Rolfes, Muriel ; Borde, Julika ; Möllenhoff, Kathrin...
Cancers. 14 (2022) 13 - p. 3292 , 2022

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

6

A mosaic PIK3CA variant in a young adult with diffuse gastr..:

te Paske, Iris B. A. W. ; Garcia-Pelaez, José ; Sommer, Anna K....
European Journal of Human Genetics. 29 (2021) 9 - p. 1354-1358 , 2021

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

7

Case Report: ANXA2 Associated Life-Threatening Coagulopathy..:

Ruhnke, Leo ; Stölzel, Friedrich ; Wagenführ, Lisa...
Frontiers in Oncology. 11 (2021) - p. , 2021

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

8

Novel dominant-negative NR2F1 frameshift mutation and a phe..:

Walsh, Sonja ; Gösswein, Sophie Scarlett ; Rump, Andreas...
European Journal of Medical Genetics. 63 (2020) 10 - p. 104019 , 2020

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

9

Performance of Breast Cancer Polygenic Risk Scores in 760 F..:

Borde, Julika ; Ernst, Corinna ; Wappenschmidt, Barbara...
JNCI: Journal of the National Cancer Institute. 113 (2020) 7 - p. 893-899 , 2020

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

10

Correction: Diagnostic value of partial exome sequencing in..:

Gieldon, Laura ; Mackenroth, Luisa ; Kahlert, Anne-Karin...
PLOS ONE. 15 (2020) 9 - p. e0239959 , 2020

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

11

Criteria of the German Consortium for Hereditary Breast and..:

Wappenschmidt, Barbara ; Hauke, Jan ; Faust, Ulrike...
Geburtshilfe und Frauenheilkunde. 80 (2020) 4 - p. 410-429 , 2020

Link: https://doi.org/10.1055/..

12

Novel truncating PPM1D mutation in a patient with intellect..:

Porrmann, Joseph ; Rump, Andreas ; Hackmann, Karl...
European Journal of Medical Genetics. 62 (2019) 1 - p. 70-72 , 2019

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

13

Optimizing Genetic Workup in Pheochromocytoma and Paragangl..:

Gieldon, Laura ; William, Doreen ; Hackmann, Karl...
Cancers. 11 (2019) 6 - p. 809 , 2019

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

14

Genetic and genomic studies of pathogenic EXOSC2 mutations ..:

Lu, Bingwei ; Khavari, Paul ; Rump, Andreas...
Human Molecular Genetics. 29 (2019) 4 - p. 541-553 , 2019

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

15

Targeted capture-based NGS is superior to multiplex PCR-bas..:

Zakrzewski, Falk ; Gieldon, Laura ; Rump, Andreas...
BMC Cancer. 19 (2019) 1 - p. , 2019

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