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1.
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.
Am J Med Genet A
; 194(6): e63551, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38321651
2.
Feasibility and safety of synchrotron-based X-ray phase contrast imaging as a technique complementary to histopathology analysis.
Histochem Cell Biol
; 160(5): 377-389, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37523091
3.
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Acta Neuropathol
; 145(6): 793-814, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37000196
4.
Accuracy of high-risk HPV DNA PCR, p16(INK4a) immunohistochemistry or the combination of both to diagnose HPV-driven oropharyngeal cancer.
BMC Infect Dis
; 22(1): 676, 2022 Aug 06.
Article
in English
| MEDLINE | ID: mdl-35933382
5.
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
J Med Genet
; 58(11): 778-782, 2021 11.
Article
in English
| MEDLINE | ID: mdl-32900841
6.
Efficacy and histopathological effects of self-assembling peptides RADA16 and IEIK13 in neurosurgical hemostasis.
Nanomedicine
; 40: 102485, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34748959
7.
Human brain pathology in myotonic dystrophy type 1: A systematic review.
Neuropathology
; 41(1): 3-20, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33599033
8.
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
PLoS Genet
; 14(12): e1007845, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30543681
9.
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
PLoS Genet
; 14(4): e1007321, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29621230
10.
Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
Clin Genet
; 98(5): 423-432, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32333401
11.
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
J Inherit Metab Dis
; 43(6): 1265-1278, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32557630
12.
Desmoid tumors display a strong immune infiltration at the tumor margins and no PD-L1-driven immune suppression.
Cancer Immunol Immunother
; 68(10): 1573-1583, 2019 Oct.
Article
in English
| MEDLINE | ID: mdl-31511925
13.
Dendritic cell vaccination as postremission treatment to prevent or delay relapse in acute myeloid leukemia.
Blood
; 130(15): 1713-1721, 2017 10 12.
Article
in English
| MEDLINE | ID: mdl-28830889
14.
RANK-RANKL Signaling in Cancer of the Uterine Cervix: A Review.
Int J Mol Sci
; 20(9)2019 May 02.
Article
in English
| MEDLINE | ID: mdl-31052546
15.
Multiple phenotypes in phosphoglucomutase 1 deficiency.
N Engl J Med
; 370(6): 533-42, 2014 Feb 06.
Article
in English
| MEDLINE | ID: mdl-24499211
16.
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Genet Med
; 19(4): 386-395, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27632686
17.
Prognosis and treatment of FOLFOX therapy related interstitial pneumonia: a plea for multimodal immune modulating therapy in the respiratory insufficient patient.
BMC Cancer
; 17(1): 586, 2017 Aug 29.
Article
in English
| MEDLINE | ID: mdl-28851379
18.
A case report of a novel NTRK gene fusion in pleomorphic xanthoastrocytoma.
Clin Neuropathol
; 41(5): 233-235, 2022.
Article
in English
| MEDLINE | ID: mdl-35575416
19.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Am J Hum Genet
; 93(1): 6-18, 2013 Jul 11.
Article
in English
| MEDLINE | ID: mdl-23746549
20.
Neuroinflammation and structural injury of the fetal ovine brain following intra-amniotic Candida albicans exposure.
J Neuroinflammation
; 13: 29, 2016 Feb 02.
Article
in English
| MEDLINE | ID: mdl-26842664