Detalhe da pesquisa
1.
Impact of public health interventions for food allergy prevention on rates of infant anaphylaxis.
Ann Allergy Asthma Immunol;
130(3): 347-354.e1, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36122889
2.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet;
102(3): 505-514, 2018 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29499166
3.
Bi-allelic mutations in MYL1 cause a severe congenital myopathy.
Hum Mol Genet;
27(24): 4263-4272, 2018 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30215711
4.
Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening.
J Med Genet;
55(11): 744-752, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30068663
5.
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Am J Hum Genet;
96(6): 955-61, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26004201
6.
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
Hum Mol Genet;
22(24): 4978-87, 2013 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23886664
7.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
J Pers Med;
12(11)2022 Oct 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36579509
8.
Genetic neuromuscular disorders: what is the best that we can do?
Neuromuscul Disord;
31(10): 1081-1089, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34736628
9.
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Eur J Hum Genet;
29(1): 79-87, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32678339
10.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Ann Clin Transl Neurol;
7(3): 353-362, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32153140
11.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology;
95(24): e3163-e3179, 2020 12 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33144514
12.
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.
J Neurol Neurosurg Psychiatry;
85(9): 1058-60, 2014 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24610938
13.
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.
Am J Med Genet A;
164A(7): 1846-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24782201
14.
Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.
BMJ Open;
9(6): e028209, 2019 06 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31209093
15.
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Orphanet J Rare Dis;
10: 148, 2015 Nov 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26578207
16.
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
JAMA Neurol;
72(12): 1424-32, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26436962