Detalhe da pesquisa
1.
Mutations in DCHS1 cause mitral valve prolapse.
Nature
; 525(7567): 109-13, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258302
2.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Hum Mol Genet
; 26(6): 1078-1086, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087732
3.
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Nephrol Dial Transplant
; 32(1): 151-156, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940125
4.
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann-Pick disease type C.
Am J Med Genet A
; 170(9): 2486-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27271431
5.
Long noncoding RNAs, chromatin, and development.
ScientificWorldJournal
; 10: 90-102, 2010 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20062956
6.
Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar.
Gene
; 689: 34-42, 2019 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30553997
7.
A comprehensive global genotype-phenotype database for rare diseases.
Mol Genet Genomic Med
; 5(1): 66-75, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28116331
8.
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Eur J Hum Genet
; 25(2): 176-182, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27848944
9.
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Eur J Hum Genet
; 23(9): 1192-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407002
10.
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.
J Mol Diagn
; 17(2): 162-70, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25556971
11.
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
JIMD Rep
; 22: 11-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25663424
12.
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Mol Genet Genomic Med
; 3(5): 396-403, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26436105
13.
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
Mol Genet Genomic Med
; 2(5): 412-21, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25333066
14.
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
Eur J Hum Genet
; 22(4): 528-34, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23942198
15.
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Nat Genet
; 44(4): 456-60, S1-3, 2012 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22406640
16.
Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome).
OMICS
; 20(5): 325-7, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195969