Suchergebnisse - "Vaclavik, Veronika"

PubPharm (52)

1

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

enthalten in: bioRxiv.org | 2024

von Panneman, D. | Hitti-Malin, R. | Holtes, L. | +45

2

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads

enthalten in: American journal of human genetics | 2024

von Quinodoz, M. | Kaminska, K. | Cancellieri, F. | +24

3

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants : refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology

enthalten in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie | 2024

von Vaclavik, V. | Navarro, A. | Jacot-Guillarmod, A. | +6

4

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland

enthalten in: Ophthalmic research | 2024

von Conti, G. | Vaclavik, V. | Rivolta, C. | +4

5

GNB1-Related Rod-Cone Dystrophy : A Case Report

enthalten in: Case reports in ophthalmology | 2024

von Conti, G. | Cancellieri, F. | Quinodoz, M. | +4

6

Coats-like Vasculopathy in Inherited Retinal Disease : Prevalence, Characteristics, Genetics, and Management

enthalten in: Ophthalmology | 2023

von Daich Varela, M. | Conti, G. | Malka, S. | +5

7

Acute bilateral blindness due to diffuse outer retinopathy following clear lens exchange : a case report

enthalten in: BMC ophthalmology | 2023

von Gurtler, N. | Bughin, A. | Vaclavik, V. | +2

8

Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants ofCYP2U1

enthalten in: bioRxiv.org | 2023

von Sallo, F. | Dysli, C. | Holzer, F. | +8

9

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

enthalten in: Frontiers in cell and developmental biology | 2023

von Panneman, D. | Hitti-Malin, R. | Holtes, L. | +45

10

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

enthalten in: American journal of human genetics | 2022

von Van de Sompele, S. | Small, K. | Cicekdal, M. | +26

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