Detalhe da pesquisa
1.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Am J Hum Genet
; 110(1): 105-119, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36493768
2.
Fragility of Statistically Significant Outcomes in Colonic Diverticular Disease Randomized Trials: A Systematic Review.
Dis Colon Rectum
; 67(3): 414-426, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37889999
3.
Assessing the Modified Frailty Index and Post-Operative Outcomes in Adhesive Small Bowel Obstruction: A Retrospective Cohort Study.
J Surg Res
; 297: 71-82, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38447338
4.
The role of warmed-humidified carbon dioxide insufflation in colorectal surgery: A systematic review and meta-analysis.
Colorectal Dis
; 26(1): 7-21, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37985859
5.
HEmoRhoidal disease management with Band ligation versus polidocanol Sclerotherapy: a systematic review and meta-analysis (the HerBS Review).
Int J Colorectal Dis
; 38(1): 112, 2023 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133577
6.
Informing a value care model: lessons from an integrated adult neurogenomics clinic.
Intern Med J
; 53(12): 2198-2207, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37092903
7.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Am J Hum Genet
; 110(6): 1018, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37267898
8.
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.
J Clin Immunol
; 41(8): 1915-1935, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657246
9.
Serum interleukin-31 level and pruritus in atopic dermatitis: A Meta-analysis.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 43(2): 124-130, 2018 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29559593
10.
Efficacy of combination of ozonated water with oil for treatment of tinea pedis.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 43(2): 147-151, 2018 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29559597
11.
Tip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?
Intern Med J
; 52(11): 2011-2012, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36404119
12.
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Brain
; 143(10): e82, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949124
13.
Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.
Med J Aust
; 215(8): 384-384.e1, 2021 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34571580
14.
Everolimus-Induced Remission of Classic Kaposi's Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency.
J Clin Immunol
; 40(5): 774-779, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32562209
15.
Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation.
J Clin Immunol
; 39(5): 519-522, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119601
16.
Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Acta Diabetol
; 61(2): 181-188, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37812285
17.
A mitochondrial cytopathy presenting with persistent troponin elevation: case report.
Eur Heart J Case Rep
; 7(4): ytad132, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37123645
18.
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Mol Genet Genomic Med
; 10(5): e1923, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293157
19.
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Int J Cardiol
; 330: 128-134, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581180
20.
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
J Endocr Soc
; 4(10): bvaa104, 2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939435