E-LIB Suche - Ergebnisse für: Baumann, Britta

1

Comprehensive variant spectrum of the CNGA3 gene in patient..:

Solaki, Maria ; Baumann, Britta ; Reuter, Peggy...
Human Mutation, 1059-7794, 2022, 43:7, s. 832-858. , 2022

Link: http://urn.kb.se/resolve..

2

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

Stingl, Katarina ; Baumann, Britta ; De Angeli, Pietro...
uri/info:doi/10.3390/ijms23126868. , 2022

Link: http://hdl.handle.net/20..

3

The landscape of submicroscopic structural variants at the ..:

Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena...
https://discovery.ucl.ac.uk/id/eprint/10151051/1/pnas.2115538119.pdf. , 2022

Link: https://discovery.ucl.ac..

4

Comprehensive variant spectrum of the CNGA3 gene in patient..:

Solaki, Maria ; Baumann, Britta ; Reuter, Peggy...
https://research.vumc.nl/en/publications/5d7e1042-524d-496f-9c64-cb515f8168c7. , 2022

Link: https://research.vumc.nl..

5

Comprehensive variant spectrum of the CNGA3 gene in patient..:

Solaki, Maria ; Baumann, Britta ; Reuter, Peggy...
https://research.vumc.nl/en/publications/5d7e1042-524d-496f-9c64-cb515f8168c7. , 2022

Link: https://research.vumc.nl..

6

Investigative ophthalmology & visual science / Phenotype va..:

Zobor, Ditta ; Zobor, Gergely ; Hipp, Stephanie...
vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-41382/128. , 2018

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

7

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

Buena-Atienza, Elena ; Ruether, Klaus ; Baumann, Britta...
https://research.rug.nl/en/publications/4e010bfd-2502-4eae-8fc8-800196f0f7d1. , 2016

Link: https://hdl.handle.net/1..

8

Dissecting the pathogenic mechanisms of mutations in the po..:

Koeppen, Katja ; Reuter, Peggy ; Ladewig, Thomas...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.21283. , 2010

Link: https://hal.science/hal-..

9

A Homologous Genetic Basis of the Murine Cpfl1 Mutant and H..:

Chang, Bo ; Grau, Tanja ; Dangel, Susann...
10.1073/pnas.0907720106. , 2009

Link: http://hdl.handle.net/11..

10

CNGB3 mutations account for 50% of all cases with autosomal..:

Kohl, Susanne ; Varsanyi, Balazs ; Antunes, Gesine Abadin...
url:https://www.openaccessrepository.it/communities/itmirror. , 2005

Link: https://www.openaccessre..

11

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

Katarina Stingl ; Britta Baumann ; Pietro De Angeli...
Molecular Genetics and Genomics. , 2022

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

12

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

Katarina Stingl ; Britta Baumann ; Pietro De Angeli...
https://www.mdpi.com/1422-0067/23/12/6868. , 2022

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

13

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

Susanne Kohl ; Britta Baumann ; Francesca Dassie...
Molecular Biology. , 2021

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

14

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

Susanne Kohl ; Britta Baumann ; Francesca Dassie...
https://www.mdpi.com/1422-0067/22/15/7842. , 2021

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

15

Functional characterization of novel or yet uncharacterized..:

Stalke, Amelie ; Behrendt, Annika ; Skawran, Britta...
info:eu-repo/semantics/altIdentifier/doi/10.34734/FZJ-2023-02415. , 2023

Link: https://juser.fz-juelich..