E-LIB Suche - Ergebnisse für: Baumann, Britta

1

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..

2

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..

3

The landscape of submicroscopic structural variants at the ..:

Wissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9271157/. , 2022

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

4

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

Stingl, Katarina ; Baumann, Britta ; De Angeli, Pietro...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224739/. , 2022

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

5

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..

6

Multiexon deletion alleles of ATF6 linked to achromatopsia:

Lee, Eun-Jin ; Chiang, Wei-Chieh Jerry ; Kroeger, Heike...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7205249/. , 2020

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

7

Multiexon deletion alleles of ATF6 linked to achromatopsia:

Lee, Eun-Jin ; Chiang, Wei-Chieh Jerry ; Kroeger, Heike...
qt5m84w984. , 2020

Link: https://escholarship.org..

8

Deep-intronic variants in CNGB3 cause achromatopsia by pseu..:

Weisschuh, Nicole ; Sturm, Marc ; Baumann, Britta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8182131/. , 2019

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

9

Accessory heterozygous mutations in cone photoreceptor CNGA..:

Burkard, Markus ; Kohl, Susanne ; Krätzig, Timm...
qt3tx4n83z. , 2018

Link: https://escholarship.org..

10

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/..

11

Multimodal imaging including semiquantitative short-wavelen..:

Matet, Alexandre ; Kohl, Susanne ; Baumann, Britta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884771/. , 2018

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

12

Accessory heterozygous mutations in cone photoreceptor CNGA..:

Burkard, Markus ; Kohl, Susanne ; Krätzig, Timm...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6264655/. , 2018

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

13

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..

14

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

Buena-Atienza, Elena ; Ruether, Klaus ; Baumann, Britta...
https://refubium.fu-berlin.de/handle/fub188/17032. , 2016

Link: https://refubium.fu-berl..

15

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

Buena-Atienza, Elena ; Rüther, Klaus ; Baumann, Britta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4919619/. , 2016

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