E-LIB Suche - Ergebnisse für: Vaclavik, Veronika

1

Macular dystrophy in Kabuki syndrome due to de novo KMT2D v..:

Vaclavik, Veronika ; Navarro, Aurelie ; Jacot-Guillarmod, Alain...
Graefe's Archive for Clinical and Experimental Ophthalmology. 262 (2024) 6 - p. 1737-1744 , 2024

Link: https://doi.org/10.1007/..

2

Detection of elusive DNA copy-number variations in heredita..:

Quinodoz, Mathieu ; Kaminska, Karolina ; Cancellieri, Francesca...
The American Journal of Human Genetics. 111 (2024) 4 - p. 701-713 , 2024

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

3

GNB1-Related Rod-Cone Dystrophy: A Case Report:

Conti, Giovanni Marco ; Cancellieri, Francesca ; Quinodoz, Mathieu...
Case Reports in Ophthalmology. 15 (2024) 1 - p. 230-237 , 2024

Link: https://doi.org/10.1159/..

4

Coats-like Vasculopathy in Inherited Retinal Disease:

Daich Varela, Malena ; Conti, Giovanni Marco ; Malka, Samantha...
Ophthalmology. 130 (2023) 12 - p. 1327-1335 , 2023

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

5

Genetics of retinitis pigmentosa and other hereditary retin..:

Conti, Giovanni Marco ; Vaclavik, Veronika ; Rivolta, Carlo...
Ophthalmic Research. , 2023

Link: https://doi.org/10.1159/..

6

Acute bilateral blindness due to diffuse outer retinopathy ..:

Gurtler, Nicolas ; Bughin, Alice ; Vaclavik, Veronika..
BMC Ophthalmology. 23 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

7

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

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

8

Multi-omics approach dissects cis-regulatory mechanisms und..:

Van de Sompele, Stijn ; Small, Kent W. ; Cicekdal, Munevver Burcu...
The American Journal of Human Genetics. 109 (2022) 11 - p. 2029-2048 , 2022

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

9

Contribution of Whole-Genome Sequencing and Transcript Anal..:

Poncet, Anaïs F. ; Grunewald, Olivier ; Vaclavik, Veronika...
International Journal of Molecular Sciences. 23 (2022) 8 - p. 4294 , 2022

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

10

NewCOL6A6Variant Causes Autosomal Dominant Retinitis Pigmen..:

Vaclavik, Veronika ; Tiab, Leila ; Sun, Young Joo...
Investigative Opthalmology & Visual Science. 63 (2022) 3 - p. 23 , 2022

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

11

Stargardt Macular Dystrophy:

, In: Hereditary Chorioretinal Disorders; Retina Atlas,

Vaclavik, Veronika - p. 85-94 , 2020

Link: https://doi.org/10.1007/..

12

Malattia Leventinese:

, In: Hereditary Chorioretinal Disorders; Retina Atlas,

Vaclavik, Veronika - p. 107-117 , 2020

Link: https://doi.org/10.1007/..

13

Correction: Habibi I. et al. "Clinical and Genetic Findings..:

Habibi, Imen ; Falfoul, Yosra ; Todorova, Margarita G....
Genes. 11 (2020) 5 - p. 503 , 2020

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

14

Statins in ophthalmology:

Ooi, Kenneth G.-J. ; Khoo, Pauline ; Vaclavik, Veronika.
Survey of Ophthalmology. 64 (2019) 3 - p. 401-432 , 2019

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

15

Clinical and Genetic Findings of Autosomal Recessive Bestro..:

Habibi, Imen ; Falfoul, Yosra ; Todorova, Margarita G....
Genes. 10 (2019) 12 - p. 953 , 2019

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