E-LIB Suche - Ergebnisse für: Weisschuh, Nicole

1

Comprehensive analysis of two hotspot codons in the TUBB4B ..:

Bodenbender, Jan-Philipp ; Marino, Valerio ; Philipp, Julia...
Scientific Reports. 14 (2024) 1 - p. , 2024

2

Diagnostic genome sequencing improves diagnostic yield: a p..:

Weisschuh, Nicole ; Mazzola, Pascale ; Zuleger, Theresia...
Journal of Medical Genetics. 61 (2023) 2 - p. 186-195 , 2023

Link: https://doi.org/10.1136/..

3

Whole genome sequencing for USH2A-associated disease reveal..:

Reurink, Janine ; Weisschuh, Nicole ; Garanto, Alejandro...
Human Genetics and Genomics Advances. 4 (2023) 2 - p. 100181 , 2023

Link: https://doi.org/10.1016/..

4

Genetic and Clinical Profile of Retinopathies Due to Diseas..:

Zobor, Ditta ; Brühwiler, Britta ; Zrenner, Eberhart..
International Journal of Molecular Sciences. 24 (2023) 10 - p. 8915 , 2023

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

5

Optical genome mapping and revisiting short-read genome seq..:

de Bruijn, Suzanne E. ; Rodenburg, Kim ; Corominas, Jordi...
Genetics in Medicine. 25 (2023) 3 - p. 100345 , 2023

Link: https://doi.org/10.1016/..

6

Systematic analysis of CNGA3 splice variants identifies dif..:

Reuter, Peggy ; Walter, Magdalena ; Kohl, Susanne.
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

7

Biallelic Variants in TULP1 Are Associated with Heterogeneo..:

Bodenbender, Jan-Philipp ; Marino, Valerio ; Bethge, Leon...
International Journal of Molecular Sciences. 24 (2023) 3 - p. 2709 , 2023

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

8

Central Visual Function and Genotype–Phenotype Correlations..:

Kuehlewein, Laura ; Straßer, Torsten ; Blumenstock, Gunnar...
Investigative Opthalmology & Visual Science. 63 (2022) 5 - p. 9 , 2022

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

9

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal..:

Reith, Milda ; Zeltner, Lena ; Schäferhoff, Karin...
International Journal of Molecular Sciences. 23 (2022) 4 - p. 2271 , 2022

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

10

Molecular Properties of Human Guanylate Cyclase-Activating ..:

Avesani, Anna ; Bielefeld, Laura ; Weisschuh, Nicole...
International Journal of Molecular Sciences. 23 (2022) 6 - p. 3240 , 2022

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

11

Characterization of a novel non‐canonical splice site varia..:

Priglinger, Claudia S. ; Rudolph, Günter ; Schmid, Irene...
Molecular Genetics & Genomic Medicine. 11 (2022) 3 - p. , 2022

Link: https://doi.org/10.1002/..

12

Corrigendum to "Splicing mutations in inherited retinal dis..:

Weisschuh, Nicole ; Buena-Atienza, Elena ; Wissinger, Bernd
Progress in Retinal and Eye Research. 88 (2022) - p. 101019 , 2022

Link: https://doi.org/10.1016/..

13

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in..:

Nasser, Fadi ; Kohl, Susanne ; Kurtenbach, Anne...
Genes. 13 (2022) 7 - p. 1218 , 2022

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

14

Genome-Wide Association Study Identifies Two Common Loci As..:

Simcoe, Mark J. ; Shah, Ameet ; Fan, Baojian...
Ophthalmology. 129 (2022) 6 - p. 626-636 , 2022

Link: https://doi.org/10.1016/..

15

DNAJC30 disease-causing gene variants in a large Central Eu..:

Kieninger, Sinja ; Xiao, Ting ; Weisschuh, Nicole...
Journal of Medical Genetics. 59 (2022) 10 - p. 1027-1034 , 2022

Link: https://doi.org/10.1136/..