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1.
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
BMC Nephrol
; 25(1): 139, 2024 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38649831
2.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-34321324
3.
Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.
BMC Pediatr
; 22(1): 745, 2022 12 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36581828
4.
A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.
J Clin Immunol
; 41(8): 1839-1852, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34427831
5.
Screening for anaplastic lymphoma kinase (ALK) gene rearrangements in non-small-cell lung cancer in New Zealand.
Intern Med J
; 50(6): 716-725, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31318119
6.
A Prospective Study of Sudden Cardiac Death among Children and Young Adults.
N Engl J Med
; 374(25): 2441-52, 2016 Jun 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-27332903
7.
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
BMC Cardiovasc Disord
; 19(1): 174, 2019 07 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-31337358
8.
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
J Inherit Metab Dis
; 39(3): 409-414, 2016 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-26743058
9.
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.
J Inherit Metab Dis
; 39(2): 305-8, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26497564
10.
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
BMC Med Genet
; 16: 34, 2015 May 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-25967940
11.
NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy.
J Cardiovasc Electrophysiol
; 26(12): 1346-51, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26332198
12.
Development of a cardiac inherited disease service and clinical registry: A 15-year perspective.
Am Heart J
; 209: 126-130, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-30686478
13.
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
JIMD Rep
; 64(3): 223-232, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37151360
14.
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.
J Clin Endocrinol Metab
; 108(12): 3201-3213, 2023 Nov 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37329217
15.
In vivo testing of microRNA-mediated gene knockdown in zebrafish.
J Biomed Biotechnol
; 2012: 350352, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22500088
16.
Effects of kiwifruit extracts on colonic gene and protein expression levels in IL-10 gene-deficient mice.
Br J Nutr
; 108(1): 113-29, 2012 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-22152591
17.
Fluorescent function-spacer-lipid construct labelling allows for real-time in vivo imaging of cell migration and behaviour in zebrafish (Danio rerio).
J Fluoresc
; 22(4): 1055-63, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22434405
18.
Application of complementary luminescent and fluorescent imaging techniques to visualize nuclear and cytoplasmic Ca²âº signalling during the in vivo differentiation of slow muscle cells in zebrafish embryos under normal and dystrophic conditions.
Clin Exp Pharmacol Physiol
; 39(1): 78-86, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21824171
19.
Targeted mutagenesis of zebrafish: use of zinc finger nucleases.
Birth Defects Res C Embryo Today
; 93(3): 249-55, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21932433
20.
Kiwifruit extracts inhibit cytokine production by lipopolysaccharide-activated macrophages, and intestinal epithelial cells isolated from IL10 gene deficient mice.
Cell Immunol
; 270(1): 70-9, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21600571