Detalhe da pesquisa
1.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum Mutat;
41(3): 591-599, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31821646
2.
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Clin Genet;
98(1): 32-42, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32279305
3.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
FASEB J;
33(10): 11507-11527, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31345061
4.
Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients.
Blood;
127(24): 3062-72, 2016 06 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26956172
5.
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
J Med Genet;
54(9): 598-606, 2017 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28756411
6.
Semi-automated cancer genome analysis using high-performance computing.
Hum Mutat;
38(10): 1325-1335, 2017 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28598576
7.
Association of Gender With Outcome and Host Response in Critically Ill Sepsis Patients.
Crit Care Med;
45(11): 1854-1862, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28806220
8.
Comparative Analysis of the Host Response to Community-acquired and Hospital-acquired Pneumonia in Critically Ill Patients.
Am J Respir Crit Care Med;
194(11): 1366-1374, 2016 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27267747
9.
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Hum Mol Genet;
23(22): 6069-80, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24939913
10.
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Ann Neurol;
77(6): 972-86, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25726841
11.
A molecular biomarker to diagnose community-acquired pneumonia on intensive care unit admission.
Am J Respir Crit Care Med;
192(7): 826-35, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26121490
12.
Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks.
BMC Genomics;
16: 84, 2015 Feb 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25765079
13.
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Hum Genet;
134(7): 691-704, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25893793
14.
Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.
Epilepsia;
56(9): e129-33, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26174448
15.
Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating.
Proc Natl Acad Sci U S A;
109(16): 6271-6, 2012 Apr 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22451930
16.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Hum Mutat;
35(10): 1153-62, 2014 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25044745
17.
Wnt signaling and Dupuytren's disease.
N Engl J Med;
365(4): 307-17, 2011 Jul 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21732829
18.
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Epilepsia;
55(8): e89-93, 2014 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24995671
19.
Molecular Biomarker to Assist in Diagnosing Abdominal Sepsis upon ICU Admission.
Am J Respir Crit Care Med;
197(8): 1070-1073, 2018 04 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28972859
20.
Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam.
Epilepsia;
54(1): 36-44, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22881836