Detalhe da pesquisa
1.
The enigma of sclera-specific autoimmunity in scleritis.
J Autoimmun
; 144: 103178, 2024 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38368769
2.
Refractory Stage M Ganglioneuroblastoma With Bone Metastases and a Favorable, Chronic Course of Disease: Description of a Patient Cohort.
J Pediatr Hematol Oncol
; 44(1): e5-e13, 2022 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33885033
3.
MR imaging for the quantitative assessment of brain iron in aceruloplasminemia: A postmortem validation study.
Neuroimage
; 245: 118752, 2021 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34823024
4.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Hum Mol Genet
; 25(3): 571-83, 2016 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26647307
5.
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
J Inherit Metab Dis
; 41(6): 1247-1258, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30083803
6.
Raman spectroscopy for cancer detection and cancer surgery guidance: translation to the clinics.
Analyst
; 142(17): 3025-3047, 2017 Aug 21.
Artigo
Inglês
| MEDLINE | ID: mdl-28726868
7.
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
Hum Mol Genet
; 23(5): 1320-32, 2014 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24150847
8.
Evidence for influenza virus CNS invasion along the olfactory route in an immunocompromised infant.
J Infect Dis
; 210(3): 419-23, 2014 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24550441
9.
Miscarriage Associated with Zika Virus Infection.
N Engl J Med
; 375(10): 1002-4, 2016 Sep 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27463941
10.
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Hum Mutat
; 34(5): 706-13, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23418007
11.
Scleroderma-like renal crisis in a patient with anti-threonyl-tRNA synthetase-associated antisynthetase syndrome.
Rheumatology (Oxford)
; 57(4): 763-765, 2018 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29394404
12.
To distinguish IgG4-related disease from seronegative granulomatosis with polyangiitis.
Rheumatology (Oxford)
; 56(12): 2245-2247, 2017 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28968906
13.
Expression of HDACs 1, 3 and 8 Is Upregulated in the Presence of Infiltrating Lymphocytes in Uveal Melanoma.
Cancers (Basel)
; 13(16)2021 Aug 18.
Artigo
Inglês
| MEDLINE | ID: mdl-34439300
14.
Fatal Balamuthia mandrillaris Meningoencephalitis in the Netherlands after Travel to The Gambia.
Emerg Infect Dis
; 21(5): 896-8, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25897644
15.
Blinded by shiga toxin-producing O104 Escherichia coli and hemolytic uremic syndrome.
J Pediatr
; 165(2): 410-410.e1, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24840758
16.
Right atrial and ventricular angiosarcoma.
Eur Heart J
; 34(43): 3361, 2013 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-24096329
17.
Aberrant MicroRNA Expression and Its Implications for Uveal Melanoma Metastasis.
Cancers (Basel)
; 11(6)2019 Jun 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31212861
18.
Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
Circ Genom Precis Med
; 12(9): 397-406, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31461301
19.
Phenotypic consequences of a novel SCO2 gene mutation.
Am J Med Genet A
; 146A(21): 2822-7, 2008 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18924171
20.
Expression and inhibition of BRD4, EZH2 and TOP2A in neurofibromas and malignant peripheral nerve sheath tumors.
PLoS One
; 12(8): e0183155, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28813519