Detalhe da pesquisa
1.
P-hacking in clinical trials and how incentives shape the distribution of results across phases.
Proc Natl Acad Sci U S A
; 117(24): 13386-13392, 2020 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32487730
2.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Hum Mutat
; 41(12): 2179-2194, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131181
3.
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Genet Med
; 20(6): 614-621, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29309402
4.
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
Hum Mol Genet
; 22(11): 2177-85, 2013 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418306
5.
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Hum Mutat
; 35(5): 565-70, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24616153
6.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Pediatr Nephrol
; 29(8): 1451-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24504730
7.
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Hum Mutat
; 34(5): 714-24, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418020
8.
Early bone resorption after vertical bone augmentation--a comparison of calvarial and iliac grafts.
Clin Oral Implants Res
; 24(7): 820-5, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22458589
9.
Scalable funding of Bitcoin micropayment channel networks.
R Soc Open Sci
; 5(8): 180089, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30225004
10.
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Mol Genet Genomic Med
; 5(5): 531-552, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944237
11.
Unilateral Holmes tremor, clearly responsive to cerebrospinal fluid release, in a patient with an ischemic midbrain lesion and associated chronic hydrocephalic ventricle enlargement. Case report.
J Neurosurg
; 104(3): 448-51, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16572662
12.
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
PLoS One
; 10(2): e0116680, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25646624
13.
Original and repair bond strength of fiber-reinforced composites in vitro.
Dent Mater
; 30(4): 456-62, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24518353
14.
Early bone resorption of free microvascular reanastomized bone grafts for mandibular reconstruction--a comparison of iliac crest and fibula grafts.
J Craniomaxillofac Surg
; 42(5): e217-23, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24269641
15.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PLoS One
; 8(11): e78496, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24265693
16.
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
Orphanet J Rare Dis
; 7: 59, 2012 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22938382
17.
Implantation of electrodes for deep brain stimulation of the subthalamic nucleus in advanced Parkinson's disease with the aid of intraoperative microrecording under general anesthesia.
Neurosurgery
; 59(5): E1138; discussion E1138, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17143204