E-LIB Suche - Ergebnisse für: Baumann, Britta

1

Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene c..:

Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena..
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

2

Comprehensive variant spectrum of theCNGA3gene in patients ..:

Solaki, Maria ; Baumann, Britta ; Reuter, Peggy...
Human Mutation. 43 (2022) 7 - p. 832-858 , 2022

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

3

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing De..:

Stingl, Katarina ; Baumann, Britta ; De Angeli, Pietro...
International Journal of Molecular Sciences. 23 (2022) 12 - p. 6868 , 2022

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

4

The landscape of submicroscopic structural variants at theO..:

Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena...
Proceedings of the National Academy of Sciences. 119 (2022) 27 - p. , 2022

Link: https://doi.org/10.1073/..

5

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient..:

Kohl, Susanne ; Baumann, Britta ; Dassie, Francesca...
International Journal of Molecular Sciences. 22 (2021) 15 - p. 7842 , 2021

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

6

Phenotype Variations Caused by Mutations in theRP1L1Gene in..:

Zobor, Ditta ; Zobor, Gergely ; Hipp, Stephanie...
Investigative Opthalmology & Visual Science. 59 (2018) 7 - p. 3041 , 2018

Link: https://doi.org/10.1167/..

7

Multimodal imaging including semiquantitative short-wavelen..:

Matet, Alexandre ; Kohl, Susanne ; Baumann, Britta...
Scientific Reports. 8 (2018) 1 - p. , 2018

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

8

De novo intrachromosomal gene conversion from OPN1MW to OPN..:

Buena-Atienza, Elena ; Rüther, Klaus ; Baumann, Britta...
Scientific Reports. 6 (2016) 1 - p. , 2016

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

9

Aktuelle Praxis der Diagnostik und Therapie von Beckenboden..:

Baumann, Britta , 2012

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

10

A clinically complex form of dominant optic atrophy (OPA8) ..:

Carelli, Valerio ; Schimpf, Simone ; Fuhrmann, Nico...
Human Molecular Genetics. 20 (2011) 10 - p. 1893-1905 , 2011

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

11

A Homologous Genetic Basis of the Murine cpfl1 Mutant and H..:

Chang, Bo ; Grau, Tanja ; Dangel, Susann...
Proceedings of the National Academy of Sciences of the United States of America. 106 (2009) 46 - p. 19581-19586 , 2009

Link: https://www.jstor.org/st..

12

A homologous genetic basis of the murinecpfl1mutant and hum..:

Chang, Bo ; Grau, Tanja ; Dangel, Susann...
Proceedings of the National Academy of Sciences. 106 (2009) 46 - p. 19581-19586 , 2009

Link: https://doi.org/10.1073/..

13

Functional analysis of human CNGA3 mutations associated wit..:

Koeppen, Katja ; Reuter, Peggy ; Kohl, Susanne...
European Journal of Neuroscience. 27 (2008) 9 - p. 2391-2401 , 2008

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

14

Human Rod Monochromacy: Linkage Analysis and Mapping of a C..:

Wissinger, Bernd ; Jägle, Herbert ; Kohl, Susanne...
Genomics. 51 (1998) 3 - p. 325-331 , 1998

Link: https://doi.org/10.1006/..

15

Mutation Analysis of the ND6 Gene in Patients with Lebers H..:

Wissinger, Bernd ; Besch, Dorothea ; Baumann, Britta...
Biochemical and Biophysical Research Communications. 234 (1997) 2 - p. 511-515 , 1997

Link: https://doi.org/10.1006/..