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Identification of functional single nucleotide polymorphisms in the branchpoint site.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0122-6
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- Publication type:
- Article
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.
- Published in:
- Journal of Gastroenterology, 2014, v. 49, n. 8, p. 1274, doi. 10.1007/s00535-013-0890-2
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- Publication type:
- Article
Both IgM and IgG Antibodies against Polyethylene Glycol Can Alter the Biological Activity of Methoxy Polyethylene Glycol-Epoetin Beta in Mice.
- Published in:
- Pharmaceutics, 2020, v. 12, n. 1, p. 15, doi. 10.3390/pharmaceutics12010015
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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
Genome-wide association study identifies novel susceptibility loci for migraine in Han Chinese resided in Taiwan.
- Published in:
- 2018
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- Publication type:
- journal article
VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era.
- Published in:
- Nucleic Acids Research, 2012, v. 40, p. W76, doi. 10.1093/nar/gks397
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- Publication type:
- Article
GenoWatch: a disease gene mining browser for association study.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. suppl_2, p. W336, doi. 10.1093/nar/gkn214
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- Publication type:
- Article
PrimerZ: streamlined primer design for promoters, exons and human SNPs.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. suppl_2, p. W63, doi. 10.1093/nar/gkm383
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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
Glycogen Storage Disease Type IIIa in Curly-Coated Retrievers.
- Published in:
- Journal of Veterinary Internal Medicine, 2007, v. 21, n. 1, p. 40, doi. 10.1111/j.1939-1676.2007.tb02926.x
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- Publication type:
- Article
Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis.
- Published in:
- Nature Medicine, 2008, v. 14, n. 12, p. 1343, doi. 10.1038/nm.1884
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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
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
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- 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
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
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
Use of the Biopharmaceutics Drug Disposition Classification System (BDDCS) to Help Predict the Occurrence of Idiosyncratic Cutaneous Adverse Drug Reactions Associated with Antiepileptic Drug Usage.
- Published in:
- AAPS Journal, 2016, v. 18, n. 3, p. 757, doi. 10.1208/s12248-016-9898-x
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- Publication type:
- Article
Genetic Polymorphisms of Metabolic Enzymes and the Pharmacokinetics of Indapamide in Taiwanese Subjects.
- Published in:
- AAPS Journal, 2014, v. 16, n. 2, p. 206, doi. 10.1208/s12248-013-9535-x
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- Publication type:
- 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
Association of circadian genes with diurnal blood pressure changes and non-dipper essential hypertension: a genetic association with young-onset hypertension.
- Published in:
- Hypertension Research, 2015, v. 38, n. 2, p. 155, doi. 10.1038/hr.2014.152
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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
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
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
Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.
- Published in:
- IUBMB Life, 1996, v. 39, n. 4, p. 755, doi. 10.1080/15216549600201841
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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
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
Mutations in the SLC2A10 gene cause arterial abnormalities in mice.
- Published in:
- Cardiovascular Research, 2009, v. 81, n. 2, p. 381
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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
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
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 11, p. w635, doi. 10.1093/nar/gkl236
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- Publication type:
- Article
Genome-wide expression profiles of subchondral bone in osteoarthritis.
- Published in:
- Arthritis Research & Therapy, 2013, v. 15, n. 6, p. 1, doi. 10.1186/ar4380
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- Publication type:
- Article
A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians.
- Published in:
- Journal of Biomedical Science, 2006, v. 13, n. 4, p. 489, doi. 10.1007/s11373-006-9077-7
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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
Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.
- Published in:
- Acta Neuropathologica, 1994, v. 87, n. 5, p. 531, doi. 10.1007/BF00294181
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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
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
Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 11, p. 2603, doi. 10.1038/jid.2015.240
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- Publication type:
- Article
A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis.
- Published in:
- Journal of Investigative Dermatology, 2008, v. 128, n. 7, p. 1662, doi. 10.1038/jid.2008.1
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- Publication type:
- Article