Search details
1.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol
; 93(2): 330-335, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36333996
2.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33847017
3.
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
Genet Med
; 22(8): 1413-1417, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32366965
4.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Eur J Hum Genet
; 30(9): 1017-1021, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35577938
5.
Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Parkinsonism Relat Disord
; 84: 129-134, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33611074
6.
Monogenic variants in dystonia: an exome-wide sequencing study.
Lancet Neurol
; 19(11): 908-918, 2020 11.
Article
in English
| MEDLINE | ID: mdl-33098801
7.
Increased PDGFR-beta and VEGFR-2 protein levels are associated with resistance to platinum-based chemotherapy and adverse outcome of ovarian cancer patients.
Oncotarget
; 8(58): 97851-97861, 2017 Nov 17.
Article
in English
| MEDLINE | ID: mdl-29228656
Results
1 -
7
de 7
1
Next >
>>