Found: 52
Select item for more details and to access through your institution.
Functional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 21, p. 11815, doi. 10.3390/ijms252111815
- By:
- Publication type:
- Article
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. 3201, doi. 10.1210/clinem/dgad366
- By:
- Publication type:
- Article
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1086
- By:
- Publication type:
- Article
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
- Published in:
- Microarrays (2076-3905), 2015, v. 4, n. 4, p. 490, doi. 10.3390/microarrays4040490
- By:
- Publication type:
- Article
Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice.
- Published in:
- Microarrays (2076-3905), 2013, v. 2, n. 2, p. 51, doi. 10.3390/microarrays2020051
- By:
- Publication type:
- Article
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.
- Published in:
- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/192071
- By:
- Publication type:
- Article
A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Microduplication of 3p26.3 Implicated in Cognitive Development.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Delineation of 2q32q35 Deletion Phenotypes: Two Apparent "Proximal" and "Distal" Syndromes.
- Published in:
- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/823451
- By:
- Publication type:
- Article
Citrullinaemia type I: A common mutation in the Pacific Island population.
- Published in:
- Journal of Paediatrics & Child Health, 2011, v. 47, n. 5, p. 262, doi. 10.1111/j.1440-1754.2010.01948.x
- By:
- Publication type:
- Article
Chemical discovery and global gene expression analysis in zebrafish.
- Published in:
- Nature Biotechnology, 2003, v. 21, n. 8, p. 879, doi. 10.1038/nbt852
- By:
- Publication type:
- Article
Application of complementary luminescent and fluorescent imaging techniques to visualize nuclear and cytoplasmic Ca<sup>2+</sup> signalling during the in vivo differentiation of slow muscle cells in zebrafish embryos under normal and dystrophic conditions
- Published in:
- Clinical & Experimental Pharmacology & Physiology, 2012, v. 39, n. 1, p. 78, doi. 10.1111/j.1440-1681.2011.05582.x
- By:
- Publication type:
- Article
Screening for anaplastic lymphoma kinase (ALK) gene rearrangements in non‐small‐cell lung cancer in New Zealand.
- Published in:
- Internal Medicine Journal, 2020, v. 50, n. 6, p. 716, doi. 10.1111/imj.14435
- By:
- Publication type:
- Article
NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2015, v. 26, n. 12, p. 1346, doi. 10.1111/jce.12827
- By:
- Publication type:
- Article
A Rare Chromosome 3 Imbalance and Its Clinical Implications.
- Published in:
- Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/846564
- By:
- Publication type:
- Article
A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities.
- Published in:
- Case Reports in Pediatrics, 2012, p. 1, doi. 10.1155/2012/459602
- By:
- Publication type:
- Article
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 223, doi. 10.1002/jmd2.12360
- By:
- Publication type:
- Article
Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.
- Published in:
- Medical Sciences, 2017, v. 5, n. 4, p. 22, doi. 10.3390/medsci5040022
- By:
- Publication type:
- Article
Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.
- Published in:
- Sultan Qaboos University Medical Journal, 2019, v. 19, n. 4, p. e324, doi. 10.18295/squmj.2019.19.04.008
- By:
- Publication type:
- Article
Gene flow on the ice: genetic differentiation among Adélie penguin colonies around Antarctica.
- Published in:
- Molecular Ecology, 2001, v. 10, n. 7, p. 1645, doi. 10.1046/j.0962-1083.2001.01312.x
- By:
- Publication type:
- Article
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Validation of Zebrafish ( Danio rerio) Reference Genes for Quantitative Real-time RT-PCR Normalization.
- Published in:
- Acta Biochimica et Biophysica Sinica, 2007, v. 39, n. 5, p. 384, doi. 10.1111/j.1745-7270.2007.00283.x
- By:
- Publication type:
- Article
Inhibin: a candidate gene for premature ovarian failure.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.476
- By:
- Publication type:
- Article
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
- Published in:
- Advances in Bioinformatics, 2016, p. 1, doi. 10.1155/2016/5614058
- By:
- Publication type:
- Article
Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients.
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0237-9
- By:
- Publication type:
- Article
A non-mosaic ring chromosome 9 in a newborn baby referred for ambiguous genitalia: a case study.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
A non-mosaic ring chromosome 9 in a newborn baby referred for ambiguous genitalis: a case study.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Indolent Medullary Thyroid Cancer with a RETProto-Oncogene Cys618Phe Mutation Presenting As Sporadic Unilateral Pheochromocytoma in a 55-Year-Old Korean Woman.
- Published in:
- Thyroid, 2011, v. 21, n. 3, p. 325, doi. 10.1089/thy.2010.0310
- By:
- Publication type:
- Article
Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation.
- Published in:
- Genetics Research International, 2013, p. 1, doi. 10.1155/2013/189196
- By:
- Publication type:
- Article
A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.
- Published in:
- Allergy, Asthma & Clinical Immunology, 2010, v. 6, p. 1, doi. 10.1186/1710-1492-6-12
- By:
- Publication type:
- Article
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/172408
- By:
- Publication type:
- Article
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 18, p. 2119, doi. 10.1093/hmg/11.18.2119
- By:
- Publication type:
- Article
Diabetic Dead-in-Bed Syndrome: A Possible Link to a Cardiac Ion Channelopathy.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Short interfering RNA-mediated gene targeting in the zebrafish
- Published in:
- FEBS Letters, 2004, v. 561, n. 1-3, p. 89, doi. 10.1016/S0014-5793(04)00129-2
- By:
- Publication type:
- Article
Observations on the Natural History of Camurati‐Engelmann Disease.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 5, p. 875, doi. 10.1002/jbmr.3670
- By:
- Publication type:
- Article
Hierarchical mutation screening protocol for the BRCA1 gene.
- Published in:
- Human Mutation, 2000, v. 16, n. 5, p. 422, doi. 10.1002/1098-1004(200011)16:5<422::AID-HUMU7>3.0.CO;2-3
- By:
- Publication type:
- Article
Mutations in the adrenoleukodystrophy gene.
- Published in:
- Human Mutation, 1997, v. 9, n. 6, p. 500, doi. 10.1002/(SICI)1098-1004(1997)9:6<500::AID-HUMU2>3.0.CO;2-5
- By:
- Publication type:
- Article
Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 3, p. 241
- By:
- Publication type:
- Article
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 8, p. 579
- By:
- Publication type:
- Article
Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 2, p. 103
- By:
- Publication type:
- Article
Expression of a Mutant kcnj2 Gene Transcript in Zebrafish.
- Published in:
- ISRN Otolaryngology, 2014, p. 1, doi. 10.1155/2014/324839
- By:
- Publication type:
- Article
A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis.
- Published in:
- ISRN Neurology, 2013, p. 1, doi. 10.1155/2013/908317
- By:
- Publication type:
- Article
Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.
- Published in:
- BMC Pediatrics, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12887-022-03803-3
- By:
- Publication type:
- Article
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.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0176-z
- By:
- Publication type:
- Article