Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
Frequent upregulation of HER2 protein in hormone-receptor-positive HER2-negative breast cancer after short-term neoadjuvant endocrine therapy.
Breast Cancer Res Treat
; 201(3): 387-396, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460683
3.
Current perspectives of metal-based nanomaterials as photocatalytic antimicrobial agents and their therapeutic modes of action: A review.
Environ Res
; 227: 115578, 2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36848977
4.
Direct Oral Anticoagulants Versus Warfarin in the Treatment of Cerebral Venous Thrombosis (ACTION-CVT): A Multicenter International Study.
Stroke
; 53(3): 728-738, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143325
5.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
; 104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
6.
Does gender matter to promote mental health through community engagement among older adults?
Aging Ment Health
; 26(1): 186-195, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280429
7.
A 95-gene signature stratifies recurrence risk of invasive disease in ER-positive, HER2-negative, node-negative breast cancer with intermediate 21-gene signature recurrence scores.
Breast Cancer Res Treat
; 189(2): 455-461, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34131830
8.
MIRUReader: MIRU-VNTR typing directly from long sequencing reads.
Bioinformatics
; 36(5): 1625-1626, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31603462
9.
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.
Hum Mutat
; 41(8): 1425-1434, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32442335
10.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
11.
Cardioversion of atrial fibrillation in obese patients: Results from the Cardioversion-BMI randomized controlled trial.
J Cardiovasc Electrophysiol
; 30(2): 155-161, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30375104
12.
Comparison of short-term clinical outcomes of proximal versus nonproximal lesion location in patients treated with primary percutaneous coronary intervention for ST-elevation myocardial infarction: The PROXIMITI study.
Catheter Cardiovasc Interv
; 93(1): 32-40, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30019827
13.
Changes in Statin Prescription Patterns in Patients Admitted to an Australian Geriatric Subacute Unit.
Heart Lung Circ
; 28(3): 423-429, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29433992
14.
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Hum Mutat
; 39(1): 103-113, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29024177
15.
Methodological Rigor in Preclinical Cardiovascular Research: Contemporary Performance of AHA Scientific Publications.
Circ Res
; 129(9): 887-889, 2021 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34521221
16.
Does Progesterone Receptor Matter in the Risk of Recurrence for Patients With Ductal Carcinoma in Situ?
WMJ
; 117(2): 62-67, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30048574
17.
Synchronous cardiac arrest in monozygotic twins with hypertrophic cardiomyopathy--is sudden cardiac death genetically pre-programmed?
BMC Cardiovasc Disord
; 15: 16, 2015 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25885451
18.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
19.
Role of PET/CT in multimodality imaging in differentiating cardiac sarcoidosis from arrhythmogenic right ventricular dysplasia.
J Nucl Cardiol
; 26(5): 1761-1765, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30051347
20.
Iron overload in anaemia with underlying haemoglobin constant spring in an antenatal mother in primary care.
BMJ Case Rep
; 17(2)2024 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38367998