E-LIB Suche - Ergebnisse für: Pabst, Brigitte

1

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/..

2

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba s..:

Golas, Monika M. ; Auber, Bernd ; Ripperger, Tim...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1383-1389 , 2019

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

3

16p13.11 microdeletion uncovers loss‐of‐function of a MYH11..:

Kloth, Katja ; Renner, Sina ; Burmester, Gunter...
Clinical Genetics. 96 (2019) 1 - p. 85-90 , 2019

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

4

A tandem duplication of BRCA1 exons 1–19 through DHX8 exon ..:

Du, Chen ; Mark, Dorothea ; Wappenschmidt, Barbara...
Breast Cancer Research and Treatment. 172 (2018) 3 - p. 561-569 , 2018

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

5

PMS2 inactivation by a complex rearrangement involving an H..:

Vogt, Julia ; Wernstedt, Annekatrin ; Ripperger, Tim...
European Journal of Human Genetics. 24 (2016) 11 - p. 1598-1604 , 2016

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

6

Correction: Sequential Anti-Cytomegalovirus Response Monito..:

Borchers, Sylvia ; Bremm, Melanie ; Lehrnbecher, Thomas...
PLoS ONE. 8 (2013) 4 - p. , 2013

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

7

Gilbert syndrome redefined: A complex genetic haplotype inf..:

Ehmer, Ursula ; Kalthoff, Sandra ; Fakundiny, Bastian...
Hepatology. 55 (2012) 6 - p. 1912-1921 , 2012

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

8

Sequential Anti-Cytomegalovirus Response Monitoring May All..:

Borchers, Sylvia ; Bremm, Melanie ; Lehrnbecher, Thomas...
PLoS ONE. 7 (2012) 12 - p. e50248 , 2012

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

9

Constitutional trisomy 8p11.21‐q11.21 mosaicism: a germline..:

Ripperger, Tim ; Tauscher, Marcel ; Praulich, Inka...
British Journal of Haematology. 155 (2011) 2 - p. 209-217 , 2011

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

10

Novel CHD7 mutations contributing to the mutation spectrum ..:

Wessels, Kathrin ; Bohnhorst, Bettina ; Luhmer, Ingrid...
European Journal of Medical Genetics. 53 (2010) 5 - p. 280-285 , 2010

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

11

Multi-exon out of frame deletion of the FBN1 gene leading t..:

Singh, Krishna Kumar ; Elligsen, Diana ; Liersch, Rüdiger...
Journal of Molecular and Cellular Cardiology. 42 (2007) 2 - p. 352-356 , 2007

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

12

Reciprocal translocation between Y chromosome long arm euch..:

Pabst, Brigitte ; Glaubitz, Ralf ; Schalk, Thomas...
Annales de Génétique. 45 (2002) 1 - p. 5-8 , 2002

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

13

Loss of alleles in brain tumours: Distribution and correlat..:

Diedrich, Uwe ; Lucius, Jens ; Bittermann, Hans-Joachim...
Journal of Neurology. 242 (1995) 10 - p. 707-711 , 1995

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

14

Distribution of epidermal growth factor receptor gene ampli..:

Diedrich, Uwe ; Lucius, Jens ; Baron, Eleonore...
Journal of Neurology. 242 (1995) 10 - p. 683-688 , 1995

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

15

PMS2 inactivation by a complex rearrangement involving an H..:

Vogt, Julia ; Wernstedt, Annekatrin ; Ripperger, Tim...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110070/. , 2016

Link: http://www.ncbi.nlm.nih...