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1.
Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers.
Hum Mutat
; 43(12): 2010-2020, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36054330
2.
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Ann Neurol
; 80(5): 741-753, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27666438
3.
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Brain
; 138(Pt 8): 2347-58, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26063658
4.
TREX1 Mutation in Leukodystrophy with Calcifications and Persistent Gadolinium-Enhancement.
Eur Neurol
; 77(3-4): 113-114, 2017.
Article
in English
| MEDLINE | ID: mdl-28013302
5.
A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway.
J Clin Med
; 8(4)2019 Apr 12.
Article
in English
| MEDLINE | ID: mdl-31013726
6.
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Eur J Med Genet
; 61(12): 765-772, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-30315939
7.
PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy.
J Mol Neurosci
; 53(2): 171-5, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24604296
8.
CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis.
J Neurol
; 263(9): 1864-5, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27314966
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