Detalhe da pesquisa
1.
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
J Med Genet
; 59(10): 1027-1034, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091433
2.
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.
Int J Mol Sci
; 22(2)2021 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33467000
3.
[Rare differential diagnosis of an osteolytic lesion of the mandible in a young adult]. / Seltene Differenzialdiagnose bei osteolytischer Läsion des Unterkiefers einer jungen Erwachsenen.
Pathologie (Heidelb)
; 2024 Apr 11.
Artigo
em Alemão
| MEDLINE | ID: mdl-38602523
4.
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
PLoS One
; 16(7): e0253987, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242285
5.
Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Prog Retin Eye Res
; 83: 100935, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340656
6.
Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.
ACS Chem Neurosci
; 11(10): 1458-1470, 2020 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32298085