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Baumann, Britta
459  Ergebnisse:
Personensuche X
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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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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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/..
 
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6

Deep‐intronic variants inCNGB3cause achromatopsia by pseudo..:

Weisschuh, Nicole ; Sturm, Marc ; Baumann, Britta...
Human Mutation.  41 (2019)  1 - p. 255-264 , 2019
Link: https://doi.org/10.1002/..
 
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7

Mutation spectrum and clinical investigation of achromatops..:

Felden, Julia ; Baumann, Britta ; Ali, Manir...
Human Mutation.  , 2019
Link: https://doi.org/10.1002/..
 
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8

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/..
 
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9

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/..
 
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10

CNGB3mutation spectrum including copy number variations in ..:

Mayer, Anja K. ; Cauwenbergh, Caroline ; Rother, Christine...
Human Mutation.  38 (2017)  11 - p. 1579-1591 , 2017
Link: https://doi.org/10.1002/..
 
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11

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/..
 
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12

Aktuelle Praxis der Diagnostik und Therapie von Beckenboden..:

Baumann, Britta , 2012
Link: http://nbn-resolving.de/..
 
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13

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/..
 
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14

Large deletions of theKCNV2gene are common in patients with..:

Wissinger, Bernd ; Schaich, Simone ; Baumann, Britta...
Human Mutation.  32 (2011)  12 - p. 1398-1406 , 2011
Link: https://doi.org/10.1002/..
 
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15

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

Koeppen, Katja ; Reuter, Peggy ; Ladewig, Thomas...
Human Mutation.  31 (2010)  7 - p. 830-839 , 2010
Link: https://doi.org/10.1002/..
 
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