about
Melanocortin-3 receptor gene variants in a Maori kindred with obesity and early onset type 2 diabetesLocalisation of a dystrophin-related autosomal gene to 6q24 in man, and to mouse chromosome 10 in the region of the dystrophia muscularis (dy) locusDistribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophyQuantitative real-time RT-PCR (qRT-PCR) of zebrafish transcripts: optimization of RNA extraction, quality control considerations, and data analysis.Long QT molecular autopsy in sudden infant death syndrome.The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.Fluorescent function-spacer-lipid construct labelling allows for real-time in vivo imaging of cell migration and behaviour in zebrafish (Danio rerio).Chemical discovery and global gene expression analysis in zebrafish.Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutationsIn vivo testing of microRNA-mediated gene knockdown in zebrafish.Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 geneTechnology for high-throughput screens: the present and future using zebrafish.Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech DelayInheritance of a Ring Chromosome 21 in a Couple Undergoing In Vitro Fertilization (IVF): A Case Report.Modeling inflammatory bowel disease: the zebrafish as a way forward.Frequency and genetic spectrum of maturity-onset diabetes of the young (MODY) in southern New Zealand.Whole organism approaches to chemical genomics: the promising role of zebrafish (Danio rerio).Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.The New Zealand Neuromuscular Disease Registry: rate of diagnoses confirmed by molecular testing.Null alleles at the Huntington disease locus: implications for diagnostics and CAG repeat instability.Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography.Activin is a potent growth suppressor of epithelial ovarian cancer cells.NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy.A Prospective Study of Sudden Cardiac Death among Children and Young Adults.Dystrophin and dystrophin-related proteins: a review of protein and RNA studies.Localization of two new DNA markers on the linkage map of human chromosome 6q.Genetic markers of repolarization and arrhythmic events after acute coronary syndromes.Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.Application of complementary luminescent and fluorescent imaging techniques to visualize nuclear and cytoplasmic Ca²⁺ signalling during the in vivo differentiation of slow muscle cells in zebrafish embryos under normal and dystrophic conditions.A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.Comparative semi-automated analysis of (CAG) repeats in the Huntington disease gene: use of internal standards.Visualization, characterization and modulation of calcium signaling during the development of slow muscle cells in intact zebrafish embryos.Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.Short interfering RNA-mediated gene targeting in the zebrafish.Congestive myeloradiculopathy in a patient with Cowden syndrome.Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome.The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
P50
Q28216814-BBE00100-A719-42B4-A021-C99557E52280Q28251774-F9F7EFE3-4906-4737-B651-1EEBE8C9978CQ28296640-0A5BBD73-03C3-4534-A56B-FAB248BB7945Q33530592-8F4A9082-6906-4070-9E40-C35429265EB3Q33834366-12D38180-7B7B-40F5-B961-BCDF790848DAQ33992261-CA6D3814-B7C4-4518-90E6-B2770CF24C2BQ34262591-BA350229-7B6E-4610-B940-A7E4C6C8E105Q35190124-346BCA85-F9A1-4172-8794-C1616C022BF1Q35628992-8AEF278B-A434-45B7-A6DD-7DAA60747755Q35830212-7B01CA87-A7AA-4CF3-8D03-8B9A2C8C684FQ35922149-B309CC6E-11EF-4EB8-909C-FAB722D4FFB3Q35961221-A8A49CC1-E56C-4D15-9404-519FF6E2F684Q36247994-7E0C3C3C-91E7-4DC7-8F6F-0E050B8C98B5Q36248111-B182944E-D866-4F35-9881-234E66668BDFQ36748510-9552CD3C-3082-4EAE-A2D3-C76EF5C8B170Q37560657-B6CACB3D-FAC7-415C-9591-0150D29FF341Q38088735-91EC2DAD-ACA3-4EEC-A227-26AFC2296927Q38346910-A60B1EC2-274D-46E5-AE76-11EF027BC0F9Q38393651-2ED3DF27-834D-42A7-B22F-17B975F07EC0Q39119504-BC4D50EF-D7C8-4D11-B2C5-9DBF8F08ADA9Q39122940-88B0855A-C72A-489B-8A8E-C2F7D4FE2DCAQ39843232-E3789116-17F9-444B-B4C7-79AA88A44049Q40582220-6A0087EC-9B6E-439D-B370-E11EB0D75BA1Q40687793-5F55EA80-29BC-4494-853C-C6054CD5E865Q40824730-6F479635-B8FC-4B1A-AAFD-E45E2E1C5640Q41090338-D1CCB8A7-E86F-4E7F-95F5-82C13693DA2EQ41144793-8937BB50-6A73-4FFC-86E1-6A0B7E950D82Q41946491-D50E2F73-861A-4FCD-979C-598F8AFEEB11Q43117854-17BA6D4C-EBC1-414E-B59F-34F4B28F9C67Q44872096-C58B4111-6C78-46D0-84E2-E36A1F1C4128Q45014042-7FA324E8-5EAB-4C4F-86D1-FF4B9C3F8201Q45298803-43660245-7F33-4DD8-ADE0-1C9605CDB96CQ45815510-D69F2A91-5059-4DEB-B3E1-0C99664FD281Q46238583-3D24872B-0CD4-428F-9C69-E5AA9CC19BC0Q47074083-92C0EE2E-6EF0-42BE-94D8-302ACB625835Q48490111-60B52431-2C5F-43EE-A0BC-23AA67E379BEQ48923995-1866D07A-5C01-4E1A-9374-67153BEB0FABQ50112139-F6572284-D5FC-4A0F-A528-EF49C46C614AQ50303118-3ABCBCD6-9A42-4A72-B252-C3A8E5F9CF80Q50445203-7ED1ED9D-1D9D-4BF2-8B63-A3BCD8C3F8E8
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Donald R. Love
@ast
Donald R. Love
@en
Donald R. Love
@es
Donald R. Love
@nl
Donald R. Love
@sl
type
label
Donald R. Love
@ast
Donald R. Love
@en
Donald R. Love
@es
Donald R. Love
@nl
Donald R. Love
@sl
prefLabel
Donald R. Love
@ast
Donald R. Love
@en
Donald R. Love
@es
Donald R. Love
@nl
Donald R. Love
@sl
P106
P1153
7202201340
P31
P496
0000-0003-4669-8769