V. Vaclavik

Discipline

Gestion et management (1) Economies et finances (1) Anthropologie biologique (1)

Type de document

Articles (8)

Co-auteur

Date

Source

Mot-clé

Retinitis pigmentosa (5) Retinal (Visual pigment) (4) Patients (4) Patients (4) gène (3) maladie (3) Genes (3) Human chromosome abnormalities--Diagnosis (3) Eye (3) Blindness (3) Imaging (3) maladie (3) mutation (2) perte (2) analyse (2) champ (2) âge (2) enfant (2) photographie (2) adulte (2) abords (agglomération) (2) jeune (2) Diagnosis (2) Treatment (2) Area (2) Correspondence (2) Methods (2) Correspondence (2) Cases (2) Molecular diagnosis (2)

Documents écrit par V. Vaclavik (8) | parle de V. Vaclavik (0)

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
M. Daich Varela et al.
Acute bilateral blindness due to diffuse outer retinopathy following clear lens exchange: a case report.
N. Gurtler et al. (23 oct. 2023)
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
D.M. Panneman et al. (2023)
Bazilläre Schichtablösung (BALAD) in einer makulären Aderhautmetastase eines niedriggradigen rektalen Adenokarzinoms [Bacillary Layer Detachment (BALAD) in Macular Choroidal Metastasis of a Low-grade Rectal Adenocarcinoma]
M.C. Gaillard et al.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
N. Bedoni et al. (15 oct. 2016)
Presence of a Triple Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP).
P. Escher et al. (2016)
Double Concentric Autofluorescence Ring in NR2E3-p.G56R-linked Autosomal Dominant Retinitis Pigmentosa.
P. Escher et al. (2012)
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
V. Vaclavik et al. (2010)