Detalhe da pesquisa
1.
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Dev Med Child Neurol
; 65(1): 50-57, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701389
2.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
; 59(8): 748-758, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740920
3.
"It's fundamental to the work that we do": Genetic counselors' perceptions of their role in clients' mental well-being.
J Genet Couns
; 2023 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462276
4.
Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.
J Genet Couns
; 2023 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632295
5.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719395
6.
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
7.
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Brain Commun
; 6(2): fcae056, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38444904
8.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Nat Med
; 29(7): 1681-1691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37291213
9.
Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community-a mixed methods study.
J Community Genet
; 12(4): 549-557, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185265
10.
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
11.
A protocol for cryoembedding the adult guinea pig cochlea for fluorescence immunohistology.
J Neurosci Methods
; 176(2): 144-51, 2009 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18835298
12.
Advances in Molecular and Cellular Therapies for Hearing Loss.
Mol Ther
; 16(2): 224-236, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28178538
13.
Advances in molecular and cellular therapies for hearing loss.
Mol Ther
; 16(2): 224-36, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18223547
14.
Concise review: the potential of stem cells for auditory neuron generation and replacement.
Stem Cells
; 25(11): 2685-94, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17656641
15.
Gene expression profiling analysis of the inner ear.
Hear Res
; 225(1-2): 1-10, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17300888
16.
Cochlear implants for DFNA17 deafness.
Laryngoscope
; 116(12): 2211-5, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17146397
17.
Gene expression changes during step-wise differentiation of embryonic stem cells along the inner ear hair cell pathway.
Acta Otolaryngol
; 126(11): 1148-57, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17050306
18.
Survival of partially differentiated mouse embryonic stem cells in the scala media of the guinea pig cochlea.
J Assoc Res Otolaryngol
; 6(4): 341-54, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16208453
19.
Expression of the carrier protein apolipoprotein D in the mouse inner ear.
Hear Res
; 200(1-2): 102-14, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15668042
20.
Characterisation of DRASIC in the mouse inner ear.
Hear Res
; 190(1-2): 149-60, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15051137