E-LIB Suche - Ergebnisse für: Spiegler, Stefanie

1

Inactivation of Cerebral Cavernous Malformation Genes Resul..:

Much, Christiane D. ; Sendtner, Barbara S. ; Schwefel, Konrad...
Frontiers in Molecular Biosciences. 8 (2021) - p. , 2021

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

2

Fibronectin rescues aberrant phenotype of endothelial cells..:

Schwefel, Konrad ; Spiegler, Stefanie ; Kirchmaier, Bettina C....
The FASEB Journal. 34 (2020) 7 - p. 9018-9033 , 2020

Link: https://doi.org/10.1096/..

3

First interchromosomal insertion in a patient with cerebral..:

Pilz, Robin A. ; Schwefel, Konrad ; Weise, Anja...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

4

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Pat..:

Much, Christiane D. ; Schwefel, Konrad ; Skowronek, Dariush...
Frontiers in Neurology. 10 (2019) - p. , 2019

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

5

Precise CCM1 gene correction and inactivation in patient‐de..:

Spiegler, Stefanie ; Rath, Matthias ; Much, Christiane D...
Molecular Genetics & Genomic Medicine. 7 (2019) 7 - p. , 2019

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

6

Identification of pathogenic YY1AP1 splice variants in sibl..:

Rath, Matthias ; Spiegler, Stefanie ; Strom, Tim M....
American Journal of Medical Genetics Part A. 179 (2018) 2 - p. 295-299 , 2018

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

7

Biallelic CCM3 mutations cause a clonogenic survival advant..:

Schwefel, Konrad ; Spiegler, Stefanie ; Ameling, Sabine...
Journal of Cellular and Molecular Medicine. 23 (2018) 3 - p. 1771-1783 , 2018

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

8

First large genomic inversion in familial cerebral cavernou..:

Spiegler, Stefanie ; Rath, Matthias ; Hoffjan, Sabine...
neurogenetics. 19 (2017) 1 - p. 55-59 , 2017

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

9

High-throughput sequencing of the entire genomic regions of..:

Rath, Matthias ; Jenssen, Sönke E. ; Schwefel, Konrad...
European Journal of Medical Genetics. 60 (2017) 9 - p. 479-484 , 2017

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

10

Identifizierung und Charakterisierung eines neuen Kandidate..:

Spiegler, Stefanie , 2016

Link: http://nbn-resolving.de/..

11

Constitutional de novo and postzygotic mutations in isolate..:

Rath, Matthias ; Spiegler, Stefanie ; Nath, Neetika...
Molecular Genetics & Genomic Medicine. 5 (2016) 1 - p. 21-27 , 2016

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

12

High mutation detection rates in cerebral cavernous malform..:

Spiegler, Stefanie ; Najm, Juliane ; Liu, Jian...
Molecular Genetics & Genomic Medicine. 2 (2014) 2 - p. 176-185 , 2014

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

13

Predictive genetic testing of at-risk relatives requires an..:

Schröder, Winnie ; Najm, Juliane ; Spiegler, Stefanie...
Neurosurgical Review. 37 (2013) 1 - p. 161-165 , 2013

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

14

Inactivation of Cerebral Cavernous Malformation Genes Resul..:

Much, Christiane D ; Sendtner, Barbara S ; Schwefel, Konrad...
ESSN:2296-889X. , 2021

Link: https://oa.tib.eu/renate..

15

Inactivation of Cerebral Cavernous Malformation Genes Resul..:

Much, Christiane D ; Sendtner, Barbara S ; Schwefel, Konrad...
https://epub.ub.uni-greifswald.de/frontdoor/index/index/docId/4720. , 2021

Link: https://epub.ub.uni-grei..