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Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.
- Published in:
- Journal of Gene Medicine, 2005, v. 7, n. 2, p. 171, doi. 10.1002/jgm.660
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- Publication type:
- Article
A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene.
- Published in:
- Rheumatology, 2009, v. 48, n. 4, p. 371
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- Publication type:
- Article
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
- Published in:
- 1992
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- Publication type:
- journal article
Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
- Published in:
- 1989
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- Publication type:
- journal article
Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-81
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- Publication type:
- Article
Han Chinese Cell and Genome Bank in Taiwan: Purpose, Design and Ethical Considerations.
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- Human Heredity, 2006, v. 61, n. 1, p. 27, doi. 10.1159/000091834
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- Publication type:
- Article
Medical genetics: A marker for Stevens-Johnson syndrome.
- Published in:
- Nature, 2004, v. 428, n. 6982, p. 486, doi. 10.1038/428486a
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- Publication type:
- Article
Genome-wide transcriptome analysis to further understand neutrophil activation and lncRNA transcript profiles in Kawasaki disease.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-36520-y
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- Publication type:
- Article
Pharmacogenomics of adverse drug reactions: implementing personalized medicine.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. R1, p. R58, doi. 10.1093/hmg/dds341
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- Publication type:
- Article
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 3, p. 455, doi. 10.1093/hmg/ddq492
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- Publication type:
- Article
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.
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- Human Molecular Genetics, 2010, v. 19, n. 19, p. 3721, doi. 10.1093/hmg/ddq286
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- Publication type:
- Article
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4781, doi. 10.1093/hmg/ddp441
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- Publication type:
- Article
Dysregulation of C/EBPα by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 5, p. 483, doi. 10.1093/hmg/ddl481
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- Publication type:
- Article
ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein β-subunit.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 24, p. 3569, doi. 10.1093/hmg/ddl433
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- Publication type:
- Article
A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1745, doi. 10.1093/hmg/ddi180
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- Publication type:
- Article
A genome-wide association study identifies a novel susceptibility locus for the immunogenicity of polyethylene glycol.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00622-4
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- Publication type:
- Article
Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study.
- Published in:
- Nature Communications, 2015, v. 6, n. 7, p. 7633, doi. 10.1038/ncomms8633
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- Publication type:
- Article
Enrichment of Prevotella intermedia in human colorectal cancer and its additive effects with Fusobacterium nucleatum on the malignant transformation of colorectal adenomas.
- Published in:
- Journal of Biomedical Science, 2022, v. 29, n. 1, p. 1, doi. 10.1186/s12929-022-00869-0
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- Publication type:
- Article
Enrichment of Prevotella intermedia in human colorectal cancer and its additive effects with Fusobacterium nucleatum on the malignant transformation of colorectal adenomas.
- Published in:
- Journal of Biomedical Science, 2022, v. 29, n. 1, p. 1, doi. 10.1186/s12929-022-00869-0
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- Publication type:
- Article
A Genome-Wide Association Study Reveals a Quantitative Trait Locus of Adiponectin on CDH13 That Predicts Cardiometabolic Outcomes.
- Published in:
- Diabetes, 2011, v. 60, n. 9, p. 2417, doi. 10.2337/db10-1321
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- Publication type:
- Article
A new analysis tool for individual-level allele frequency for genomic studies.
- Published in:
- BMC Genomics, 2010, v. 11, p. 415, doi. 10.1186/1471-2164-11-415
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- Publication type:
- Article
SAQC: SNP Array Quality Control.
- Published in:
- BMC Bioinformatics, 2011, v. 12, n. 1, p. 100, doi. 10.1186/1471-2105-12-100
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- Publication type:
- Article
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 388, doi. 10.1038/sj.ejhg.5200632
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- Publication type:
- Article
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 717, doi. 10.1038/sj.ejhg.5200366
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- Publication type:
- Article
Brain Abscess in Glycogen Storage Disease Type Ib.
- Published in:
- Acta Paediatrica, 1991, v. 80, n. 11, p. 1103, doi. 10.1111/j.1651-2227.1991.tb11793.x
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- Publication type:
- Article
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
- Published in:
- Nature Genetics, 2012, v. 44, n. 1, p. 67, doi. 10.1038/ng.1019
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- Publication type:
- Article
An integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2478-8
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- Publication type:
- Article
Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.pgen.1000985
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- Publication type:
- Article
A Genome-Wide Association Study Identifies Susceptibility Variants for Type 2 Diabetes in Han Chinese.
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- PLoS Genetics, 2010, v. 6, n. 2, p. 1, doi. 10.1371/journal.pgen.1000847
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- Publication type:
- Article
AAV Vector-mediated Reversal of Hypoglycemia in Canine and Murine Glycogen Storage Disease Type Ia.
- Published in:
- Molecular Therapy, 2008, v. 16, n. 4, p. 665, doi. 10.1038/mt.2008.15
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- Publication type:
- Article
Corrigendum to “Efficacy of Helper-dependent Adenovirus Vector-mediated Gene Therapy in Murine Glycogen Storage Disease Type Ia”.
- Published in:
- 2007
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- Publication type:
- Correction notice
Efficacy of Gene Therapy for a Prototypical Lysosomal Storage Disease (GSD-II) Is Critically Dependent on Vector Dose, Transgene Promoter, and the Tissues Targeted for Vector Transduction
- Published in:
- Molecular Therapy, 2002, v. 5, n. 4, p. 436, doi. 10.1006/mthe.2002.0563
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- Publication type:
- Article
A Mutation in Cartilage Oligomeric Matrix Protein (COMP) Causes Early-Onset Osteoarthritis in a Large Kindred Study.
- Published in:
- Annals of Human Genetics, 2011, v. 75, n. 5, p. 575, doi. 10.1111/j.1469-1809.2011.00667.x
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- Publication type:
- Article
Functional analysis of novel SNPs and mutations in human and mouse genomes.
- Published in:
- BMC Bioinformatics, 2008, v. 9, p. 1, doi. 10.1186/1471-2105-9-S12-S10
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- Publication type:
- Article
MPDA: Microarray pooled DNA analyzer.
- Published in:
- BMC Bioinformatics, 2008, v. 9, p. 1, doi. 10.1186/1471-2105-9-196
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- Publication type:
- Article
Prenatal diagnosis in glycogen storage diseases.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 5, p. 357, doi. 10.1002/pd.166
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- Publication type:
- Article
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.
- Published in:
- 1999
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- Publication type:
- journal article
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.
- Published in:
- 1992
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- Publication type:
- journal article
Determinants of the Over-Anticoagulation Response during Warfarin Initiation Therapy in Asian Patients Based on Population Pharmacokinetic-Pharmacodynamic Analyses.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105891
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- Publication type:
- Article
Palmitoyl Acyltransferase, <i>Zdhhc13,</i> Facilitates Bone Mass Acquisition by Regulating Postnatal Epiphyseal Development and Endochondral Ossification: A Mouse Model.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092194
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- Publication type:
- Article
Replication and Meta-Analysis of GWAS Identified Susceptibility Loci in Kawasaki Disease Confirm the Importance of B Lymphoid Tyrosine Kinase (<i>BLK</i>) in Disease Susceptibility.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072037
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- Publication type:
- Article
Identification of Novel Susceptibility Loci for Kawasaki Disease in a Han Chinese Population by a Genome-Wide Association Study.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016853
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- Publication type:
- Article
Garlic Accelerates Red Blood Cell Turnover and Splenic Erythropoietic Gene Expression in Mice: Evidence for Erythropoietin-Independent Erythropoiesis.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015358
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- Publication type:
- Article
Genome-Wide Association Study of Young-Onset Hypertension in the Han Chinese Population of Taiwan.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005459
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- Publication type:
- Article
Fractures in children with Pompe disease: a potential long-term complication.
- Published in:
- 2007
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- Publication type:
- journal article
Fractures in children with Pompe disease: a potentiallong-term complication.
- Published in:
- Pediatric Radiology, 2007, v. 37, n. 5, p. 437, doi. 10.1007/s00247-007-0428-y
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- Publication type:
- Article
Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study.
- Published in:
- Human Genetics, 2016, v. 135, n. 11, p. 1287, doi. 10.1007/s00439-016-1716-0
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- Publication type:
- Article
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.
- Published in:
- Scientific Reports, 2017, p. 43220, doi. 10.1038/srep43220
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- Publication type:
- Article
Purification of recombinant human precursor acid α-glucosidase.
- Published in:
- IUBMB Life, 1997, v. 43, n. 3, p. 613, doi. 10.1080/15216549700204421
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- Publication type:
- Article