E-LIB Suche - Ergebnisse für: Koller, Samuel

1

Limited Added Diagnostic Value of Whole Genome Sequencing i..:

Maggi, Jordi ; Koller, Samuel ; Feil, Silke...
International Journal of Molecular Sciences. 25 (2024) 12 - p. 6540 , 2024

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

2

Identification and Characterization of ATOH7-Regulated Targ..:

Atac, David ; Maggi, Kevin ; Feil, Silke...
Cells. 13 (2024) 13 - p. 1142 , 2024

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

3

SwissGenVar: A Platform for Clinical-Grade Interpretation o..:

Kraemer, Dennis ; Terumalai, Dillenn ; Famiglietti, Maria Livia...
Journal of Personalized Medicine. 14 (2024) 6 - p. 648 , 2024

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

4

Functional Analysis of a Novel, Non-Canonical RPGR Splice V..:

Koller, Samuel ; Beltraminelli, Tim ; Maggi, Jordi...
Genes. 14 (2023) 4 - p. 934 , 2023

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

5

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tr..:

Delas, Flora ; Koller, Samuel ; Feil, Silke...
International Journal of Molecular Sciences. 24 (2023) 23 - p. 16594 , 2023

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

6

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uni..:

Kivrak Pfiffner, Fatma ; Koller, Samuel ; Ménétrey, Anika...
International Journal of Molecular Sciences. 23 (2022) 13 - p. 7382 , 2022

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

7

Functional Characterization of an In-Frame Deletion in the ..:

Atac, David ; Mohn, Lucas ; Feil, Silke...
International Journal of Molecular Sciences. 23 (2022) 3 - p. 1053 , 2022

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

8

Whole Exome Sequencing in Coloboma/Microphthalmia: Identifi..:

Haug, Patricia ; Koller, Samuel ; Maggi, Jordi...
Genes. 12 (2021) 1 - p. 65 , 2021

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

9

Long-Range PCR-Based NGS Applications to Diagnose Mendelian..:

Maggi, Jordi ; Koller, Samuel ; Bähr, Luzy...
International Journal of Molecular Sciences. 22 (2021) 4 - p. 1508 , 2021

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

10

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Revea..:

Lang, Elena ; Koller, Samuel ; Bähr, Luzy...
Translational Vision Science & Technology. 9 (2020) 7 - p. 47 , 2020

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

11

Application of WES towards Molecular Investigation of Conge..:

Kandaswamy, Dinesh Kumar ; Prakash, Makarla Venkata Sathya ; Graw, Jochen...
International Journal of Molecular Sciences. 21 (2020) 24 - p. 9569 , 2020

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

12

Genotype–phenotype spectrum in isolated and syndromic nanop..:

Lang, Elena ; Koller, Samuel ; Atac, David...
Acta Ophthalmologica. 99 (2020) 4 - p. , 2020

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

13

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an In..:

Maggi, Jordi ; Roberts, Lisa ; Koller, Samuel...
Genes. 11 (2020) 7 - p. 800 , 2020

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

14

Atonal homolog 7 (ATOH7) loss-of-function mutations in pred..:

Atac, David Grubich ; Koller, Samuel ; Hanson, James V M...
Human Molecular Genetics. , 2019

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

15

Genotype–Phenotype Analysis of a Novel Recessive and a Recu..:

Gerth-Kahlert, Christina ; Koller, Samuel ; Hanson, James V. M....
Investigative Opthalmology & Visual Science. 60 (2019) 8 - p. 2822 , 2019

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