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Reetta‐Stiina Järvinen
Observed names:
J. Reetta‐Stiina,
Järvinen, Reetta-Stiina,
Reetta-Stiina Järvinen
Observed institutions:
University of Helsinki,
Helsinki University Hospital,
Folkhälsans Forskningscentrum
OpenAlex ID:
A5014516847
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene
2018
·
Joni A. Turunen
, Juho Wedenoja
, et al.
·
American Journal of Ophthalmology
·
35
Population-based analysis of BAP1 germline variations in patients with uveal melanoma
2019
·
Pauliina Repo
, Reetta-Stiina Järvinen
, et al.
·
Human Molecular Genetics
·
24
Germline loss‐of‐function variants in MBD4 are rare in Finnish patients with uveal melanoma
2020
·
Pauliina Repo
, Johannes E. Jäntti
, et al.
·
Pigment Cell & Melanoma Research
·
19
In Vivo Corneal Confocal Microscopy and Histopathology of Keratitis Fugax Hereditaria From a Pathogenic Variant in NLRP3
2020
·
Joni A. Turunen
, Annamari T. Immonen
, et al.
·
American Journal of Ophthalmology
·
12
Epithelial recurrent erosion dystrophy ( ERED ) from the splice site altering COL17A1 variant c. 3156C>T in families of Finnish‐Swedish ancestry
2023
·
Joni A. Turunen
, Ilpo S. Tuisku
, et al.
·
Acta Ophthalmologica
·
7
PDF
Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma
2023
·
Perttu J. Liuska
, Abdessallam Tadji
, et al.
·
Acta Ophthalmologica
·
6
Identifying haplotypes in recessive inherited retinal dystrophies using whole‐genome linked‐read sequencing
2020
·
Pauliina Repo
, Reetta‐Stiina Järvinen
, et al.
·
Clinical Genetics
·
5
Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1 ‐Associated Genes in Finnish Patients with Uveal Melanoma
2024
·
Pauliina E. Repo
, Eveliina Jakkula
, et al.
·
Pigment Cell & Melanoma Research
·
4
PDF
A novel missense TGFBI variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy
2021
·
Aino Maaria Jaakkola
, Petri J Järventausta
, et al.
·
European Journal of Ophthalmology
·
3
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma
2025
·
Pauliina E. Repo
, Eveliina Jakkula
, et al.
·
Pigment Cell & Melanoma Research
·
2
PDF
Germline variants in the MBD4 gene are rare in patients with uveal melanoma
2019
·
Pauliina Repo
, Johannes Jäntti
, et al.
·
Acta Ophthalmologica
·
1
Germline variants in cancer predisposition genes in patients with uveal melanoma
2022
·
Pauliina Repo
, Eveliina Salminen
, et al.
·
Acta Ophthalmologica
Analysis of glaucoma genes in Finnish patients with juvenile open‐angle glaucoma
2022
·
Perttu Liuska
, Abdesallam Tadji
, et al.
·
Acta Ophthalmologica
In Vivo corneal confocal microscopy study of keratoendotheliitis fugax hereditaria caused by a pathogenic variant in the NLRP3 gene
2019
·
Joni Turunen
, Annamari Immonen
, et al.
·
Acta Ophthalmologica
Candidate gene analysis of germline variants in Finnish patients with juvenile open‐angle glaucoma
2019
·
Reetta‐Stiina Järvinen
, Abdessallam Tadji
, et al.
·
Acta Ophthalmologica
Inflammasomigeeni NLRP3:n mutaatio aiheuttaa periytyvän sarveiskalvotulehduksen
2018
·
Turunen, Joni
, Wedenoja, Juho
, et al.
·
Työväentutkimus Vuosikirja
Recurrent corneal erosions dystrophy ( ERED ) in a Finnish family is caused by a COL 17A1 splice‐altering mutation
2017
·
J. Turunen
, I. Tuisku
, et al.
·
Acta Ophthalmologica
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Works count:
17
Citation count:
117
H-index:
6
I10-index:
4
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