Detalhe da pesquisa
1.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
; 111(4): 729-741, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579670
2.
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
Am J Hum Genet
; 107(6): 1149-1156, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186543
3.
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Genet Med
; 23(3): 534-542, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33110267
4.
Fragment Length of Circulating Tumor DNA.
PLoS Genet
; 12(7): e1006162, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27428049
5.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Hum Mutat
; 38(5): 517-523, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28229513
6.
A continuous-infusion dynamic MRI model at 3.0 Tesla for the serial quantitative evaluation of microvascular proliferation in an animal model of glioblastoma multiforme.
Magn Reson Med
; 78(5): 1824-1838, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28078795
7.
Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging.
J Magn Reson Imaging
; 42(6): 1611-22, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018987
8.
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Brain
; 136(Pt 2): 508-21, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23413262
9.
Subclonal Cancer Driver Mutations Are Prevalent in the Unresected Peritumoral Edema of Adult Diffuse Gliomas.
Cancer Res
; 84(7): 1149-1164, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38270917
10.
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).
Pediatr Int
; 55(6): e156-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24330302
11.
Characterization of distensibility, plaque burden, and composition of the atherosclerotic carotid artery using magnetic resonance imaging.
Med Phys
; 39(10): 6247-53, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23039660
12.
Discriminating carotid atherosclerotic lesion severity by luminal stenosis and plaque burden: a comparison utilizing high-resolution magnetic resonance imaging at 3.0 Tesla.
Stroke
; 42(2): 347-53, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21183749
13.
Fast bound pool fraction imaging of the in vivo rat brain: association with myelin content and validation in the C6 glioma model.
Neuroimage
; 54(3): 2052-65, 2011 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21029782
14.
Carotid artery atherosclerosis: effect of intensive lipid therapy on the vasa vasorum--evaluation by using dynamic contrast-enhanced MR imaging.
Radiology
; 260(1): 224-31, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21493792
15.
Leveraging the Fragment Length of Circulating Tumour DNA to Improve Molecular Profiling of Solid Tumour Malignancies with Next-Generation Sequencing: A Pathway to Advanced Non-invasive Diagnostics in Precision Oncology?
Mol Diagn Ther
; 25(4): 389-408, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34018157
16.
Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma.
Neoplasia
; 23(9): 859-869, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298235
17.
Carotid intraplaque hemorrhage imaging at 3.0-T MR imaging: comparison of the diagnostic performance of three T1-weighted sequences.
Radiology
; 254(2): 551-63, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20093526
18.
A combined solenoid-surface RF coil for high-resolution whole-brain rat imaging on a 3.0 Tesla clinical MR scanner.
Magn Reson Med
; 64(3): 883-92, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20535812
19.
Efficient flow suppressed MRI improves interscan reproducibility of carotid atherosclerosis plaque burden measurements.
J Magn Reson Imaging
; 32(2): 452-8, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20677277
20.
Scan-rescan reproducibility of carotid atherosclerotic plaque morphology and tissue composition measurements using multicontrast MRI at 3T.
J Magn Reson Imaging
; 31(1): 168-76, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20027584