Detalhe da pesquisa
1.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Pediatr Nephrol
; 37(11): 2643-2656, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35211795
2.
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
BMC Med Genet
; 16: 84, 2015 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26392352
3.
Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS).
Atherosclerosis
; 391: 117476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38447437
4.
Adenovirus E4orf3 targets transcriptional intermediary factor 1γ for proteasome-dependent degradation during infection.
J Virol
; 86(6): 3167-79, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22205733
5.
Adenovirus 12 E4orf6 inhibits ATR activation by promoting TOPBP1 degradation.
Proc Natl Acad Sci U S A
; 107(27): 12251-6, 2010 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-20566845
6.
Serotype-specific inactivation of the cellular DNA damage response during adenovirus infection.
J Virol
; 85(5): 2201-11, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21159879
7.
A rare case of adult onset LPIN1 associated rhabdomyolysis.
Neuromuscul Disord
; 30(3): 241-245, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32115342
8.
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.
J Neuromuscul Dis
; 7(2): 137-143, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985473
9.
Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case.
Neuromuscul Disord
; 28(12): 1016-1021, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30409445
10.
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
Hum Mutat
; 27(7): 716, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16786508