Detalhe da pesquisa
1.
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
Hum Mol Genet
; 31(21): 3597-3612, 2022 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147173
2.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258669
3.
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.
Aust N Z J Obstet Gynaecol
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38577897
4.
Remembered childhood mealtime experiences influence on early childcare and education staff.
Appetite
; 190: 107003, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595754
5.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Mol Genet Metab
; 137(1-2): 62-67, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35926322
6.
Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing.
J Paediatr Child Health
; 58(4): 630-635, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773316
7.
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses.
Mol Genet Metab
; 131(1-2): 197-205, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32739280
8.
Expanding the clinical utility of glucosylsphingosine for Gaucher disease.
J Inherit Metab Dis
; 43(3): 558-563, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31707742
9.
Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses.
Genet Med
; 21(3): 753-757, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061628
10.
Relapsing necrotising encephalomyelopathy due to RANBP2 mutation.
Pract Neurol
; 19(4): 360-363, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30796099
11.
Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice.
Mol Genet Metab
; 124(2): 135-142, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29747998
12.
About feeding children: factor structure and internal reliability of a survey to assess mealtime strategies and beliefs of early childhood education teachers.
Int J Behav Nutr Phys Act
; 15(1): 85, 2018 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30200993
13.
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
Mol Genet Metab
; 122(1-2): 121-125, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28847675
14.
Corrigendum to "Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosis" [Molecular Genetics and Metabolism 131 (2020) pages 197-205].
Mol Genet Metab
; 135(1): 114, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34955351
15.
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.
Mol Genet Metab
; 118(2): 100-10, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106513
16.
Metabolic emergencies and the emergency physician.
J Paediatr Child Health
; 52(2): 227-30, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27062628
17.
Screening for Down syndrome in the second trimester of pregnancy.
Aust N Z J Obstet Gynaecol
; 56(1): 19-21, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437791
18.
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis.
Rheumatology (Oxford)
; 59(12): e128-e130, 2020 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32617583
19.
The relationship between fasting plasma citrulline concentration and small intestinal function in the critically ill.
Crit Care
; 19: 16, 2015 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25599966
20.
Prostaglandin D(2) in inflammatory arthritis and its relation with synovial fluid dendritic cells.
Mediators Inflamm
; 2013: 329494, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23737645