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Cisarova, Katarina
40  Ergebnisse:
Personensuche X
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1

The first genetic landscape of inherited retinal dystrophie..:

Peter, Virginie G ; Kaminska, Karolina ; Santos, Cristina...
PNAS Nexus.  2 (2023)  3 - p. , 2023
Link: https://doi.org/10.1093/..
 
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2

Analysis of missense variants in the human genome reveals w..:

Quinodoz, Mathieu ; Peter, Virginie G. ; Cisarova, Katarina...
The American Journal of Human Genetics.  109 (2022)  3 - p. 457-470 , 2022
Link: https://doi.org/10.1016/..
 
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3

Identification of New Vulnerabilities in Conjunctival Melan..:

Nardou, Katya ; Nicolas, Michael ; Kuttler, Fabien...
Cancers.  14 (2022)  6 - p. 1575 , 2022
Link: https://doi.org/10.3390/..
 
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4

A hypomorphic variant in EYS detected by genome-wide associ..:

Nishiguchi, Koji M. ; Miya, Fuyuki ; Mori, Yuka...
Communications Biology.  4 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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5

De novo variants in CACNA1E found in patients with intellec..:

Royer-Bertrand, Beryl ; Jequier Gygax, Marine ; Cisarova, Katarina...
Molecular Autism.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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6

A monoallelicSEC23AvariantE599Kassociated withcranio‐lentic..:

Cisarova, Katarina ; Garavelli, Livia ; Caraffi, Stefano Giuseppe...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 319-325 , 2021
Link: https://doi.org/10.1002/..
 
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7

CNOT2 haploinsufficiency in a 40‐year‐old man with intellec..:

Royer‐Bertrand, Beryl ; Cisarova, Katarina ; Niel Bütschi, Florence...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2602-2606 , 2021
Link: https://doi.org/10.1002/..
 
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8

A live single-cell reporter assay links intratumor heteroge..:

Keskin, Tugba ; Rucci, Beatrice ; Cornaz-Buros, Sandrine...
Science Advances.  7 (2021)  27 - p. , 2021
Link: https://doi.org/10.1126/..
 
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9

AutoMap is a high performance homozygosity mapping tool usi..:

Quinodoz, Mathieu ; Peter, Virginie G. ; Bedoni, Nicola...
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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10

CNV Detection from Exome Sequencing Data in Routine Diagnos..:

Royer-Bertrand, Beryl ; Cisarova, Katarina ; Niel-Butschi, Florence...
Genes.  12 (2021)  9 - p. 1427 , 2021
Link: https://doi.org/10.3390/..
 
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11

Genomic and transcriptomic landscape of conjunctival melano..:

Cisarova, Katarina ; Folcher, Marc ; El Zaoui, Ikram...
PLOS Genetics.  16 (2020)  12 - p. e1009201 , 2020
Link: https://doi.org/10.1371/..
 
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12

A frequent variant in the Japanese population determines qu..:

Nikopoulos, Konstantinos ; Cisarova, Katarina ; Quinodoz, Mathieu...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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13

A Missense Mutation in the Rabbit Melanocortin 4 Receptor (..:

Fontanesi, Luca ; Scotti, Emilio ; Cisarova, Katarina...
Animal Biotechnology.  24 (2013)  4 - p. 268-277 , 2013
Link: https://doi.org/10.1080/..
 
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14

The first genetic landscape of inherited retinal dystrophie..:

Peter, Virginie G ; Kaminska, Karolina ; Santos, Cristina...
https://boris.unibe.ch/180004/.  , 2023
Link: https://boris.unibe.ch/1..
 
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15

The first genetic landscape of inherited retinal dystrophie..:

Peter, Virginie G ; Kaminska, Karolina ; Santos, Cristina...
2752-6542.  , 2023
Link: http://hdl.handle.net/10..
 
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