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Mackenroth, Luisa
18
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Online (18)
Mediatypes
Articles (Online) (13)
OpenAccess-fulltext (5)
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1
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/..
?
2
Diagnostic value of partial exome sequencing in development..:
Gieldon, Laura
;
Mackenroth, Luisa
;
Kahlert, Anne-Karin
...
PLOS ONE. 13 (2018) 8 - p. e0201041 , 2018
Link:
https://doi.org/10.1371/..
?
3
BRCA1/2 missense mutations and the value of in-silico analy..:
Sadowski, Carolin E.
;
Kohlstedt, Daniela
;
Meisel, Cornelia
...
European Journal of Medical Genetics. 60 (2017) 11 - p. 572-577 , 2017
Link:
https://doi.org/10.1016/..
?
4
Skewed X‐inactivation in a family with DLG3‐associated X‐li..:
Gieldon, Laura
;
Mackenroth, Luisa
;
Betcheva‐Krajcir, Elitza
...
American Journal of Medical Genetics Part A. 173 (2017) 9 - p. 2545-2550 , 2017
Link:
https://doi.org/10.1002/..
?
5
Spectrum of genetic variants of BRCA1 and BRCA2 in a German..:
Meisel, Cornelia
;
Sadowski, Carolin Eva
;
Kohlstedt, Daniela
...
Archives of Gynecology and Obstetrics. 295 (2017) 5 - p. 1227-1238 , 2017
Link:
https://doi.org/10.1007/..
?
6
New gain-of-function mutation shows CACNA1D as recurrently ..:
Pinggera, Alexandra
;
Mackenroth, Luisa
;
Rump, Andreas
...
Human Molecular Genetics. 26 (2017) 15 - p. 2923-2932 , 2017
Link:
https://doi.org/10.1093/..
?
7
Identification and Functional Testing of ERCC2 Mutations in..:
Rump, Andreas
;
Benet-Pages, Anna
;
Schubert, Steffen
...
PLOS Genetics. 12 (2016) 8 - p. e1006248 , 2016
Link:
https://doi.org/10.1371/..
?
8
Ready to clone: CNV detection and breakpoint fine-mapping i..:
Hackmann, Karl
;
Kuhlee, Franziska
;
Betcheva-Krajcir, Elitza
...
Breast Cancer Research and Treatment. 159 (2016) 3 - p. 585-590 , 2016
Link:
https://doi.org/10.1007/..
?
9
An overlapping phenotype of Osteogenesis imperfecta and Ehl..:
Mackenroth, Luisa
;
Fischer‐Zirnsak, Björn
;
Egerer, Johannes
...
American Journal of Medical Genetics Part A. 170 (2016) 4 - p. 1080-1085 , 2016
Link:
https://doi.org/10.1002/..
?
10
Interstitial 1q23.3q24.1 deletion in a patient with renal m..:
Mackenroth, Luisa
;
Hackmann, Karl
;
Klink, Barbara
...
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2394-2399 , 2016
Link:
https://doi.org/10.1002/..
?
11
6q22.33 microdeletion in a family with intellectual disabil..:
Mackenroth, Luisa
;
Hackmann, Karl
;
Beyer, Anke
...
American Journal of Medical Genetics Part A. 167 (2015) 11 - p. 2800-2807 , 2015
Link:
https://doi.org/10.1002/..
?
12
HBOC multi-gene panel testing: comparison of two sequencing..:
Schroeder, Christopher
;
Faust, Ulrike
;
Sturm, Marc
...
Breast Cancer Research and Treatment. 152 (2015) 1 - p. 129-136 , 2015
Link:
https://doi.org/10.1007/..
?
13
Label-free differentiation of human pituitary adenomas by F..:
Steiner, Gerald
;
Mackenroth, Luisa
;
Geiger, Kathrin D.
...
Analytical and Bioanalytical Chemistry. 403 (2012) 3 - p. 727-735 , 2012
Link:
https://doi.org/10.1007/..
?
14
Identification and Functional Testing of ERCC2 Mutations in..:
Rump, Andreas
;
Benet-Pages, Anna
;
Schubert, Steffen
...
1553-7404. , 2016
Link:
https://resolver.sub.uni..
?
15
Effective diagnosis of genetic disease by computational phe..:
Zemojtel, Tomasz
;
Köhler, Sebastian
;
Mackenroth, Luisa
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512639/. , 2014
Link:
http://www.ncbi.nlm.nih...
1-15