Detalhe da pesquisa
1.
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
J Med Genet
; 61(4): 347-355, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979963
2.
Accuracy of TrUE-Net in comparison to established white matter hyperintensity segmentation methods: An independent validation study.
Neuroimage
; 285: 120494, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086495
3.
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Mol Vis
; 28: 57-69, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693420
4.
Use of Chest Imaging in the Diagnosis and Management of COVID-19: A WHO Rapid Advice Guide.
Radiology
; 298(2): E63-E69, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32729811
5.
Decision making on antenatal screening results: A comparative Q-method study of women from two Chinese cities.
Health Expect
; 24(2): 363-376, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33316122
6.
Pathways to care for people with dementia: An international multicentre study.
Int J Geriatr Psychiatry
; 35(2): 163-173, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31657091
7.
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
Am J Hum Genet
; 99(4): 984-990, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693231
8.
Baseline Hemodynamic Impairment and Future Stroke Risk in Adult Idiopathic Moyamoya Phenomenon: Results of a Prospective Natural History Study.
Stroke
; 48(4): 894-899, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283605
9.
Equity and balance in applied dementia research: A charter of conduct and checklist for global collaborations.
Int J Geriatr Psychiatry
; 37(7)2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35703570
10.
Attitudes towards non-invasive prenatal diagnosis among obstetricians in Pakistan, a developing, Islamic country.
Prenat Diagn
; 37(3): 289-295, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28109006
11.
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
Am J Hum Genet
; 92(2): 307-12, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23375655
12.
Acute Effect of Intravenous Sildenafil on Cerebral Blood Flow in Patients with Vasospasm After Subarachnoid Hemorrhage.
Neurocrit Care
; 25(2): 201-4, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940913
13.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Nat Genet
; 39(7): 889-95, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17546029
14.
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Hum Mol Genet
; 21(4): 776-83, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22068589
15.
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Am J Hum Genet
; 89(3): 464-73, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21907015
16.
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Nat Genet
; 37(4): 353-5, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15793586
17.
Pakistani healthcare professionals' perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC.
J Community Genet
; 14(3): 287-294, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36821042
18.
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
Am J Hum Genet
; 85(5): 699-705, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19853237
19.
Null mutations in LTBP2 cause primary congenital glaucoma.
Am J Hum Genet
; 84(5): 664-71, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19361779
20.
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
Am J Hum Genet
; 84(5): 683-91, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19409519