Found: 65
Select item for more details and to access through your institution.
Association of Genes on Chromosome 6, GRIK2, TMEM217 and TMEM63B (Linked to MRPL14) with Diabetic Retinopathy.
- Published in:
- Ophthalmologica, 2012, v. 229, n. 1, p. 54, doi. 10.1159/000342616
- By:
- 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
- By:
- Publication type:
- Article
Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning.
- Published in:
- Journal of Biomedical Science, 2019, v. 26, n. 1, p. N.PAG, doi. 10.1186/s12929-019-0581-2
- By:
- Publication type:
- Article
Genetic Architecture Associated With Familial Short Stature.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Association of the Neuronal Nicotinic Acetylcholine Receptor Subunit α4 Polymorphisms with Febrile Convulsions.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 8, p. 1089, doi. 10.1046/j.1528-1157.2003.t01-1-44702.x
- By:
- Publication type:
- Article
Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semiquantitative polymerase chain reaction method.
- Published in:
- Pediatrics International, 2002, v. 44, n. 3, p. 264, doi. 10.1046/j.1442-200X.2002.01553.x
- By:
- Publication type:
- Article
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
- Published in:
- Pediatrics International, 2001, v. 43, n. 3, p. 263, doi. 10.1046/j.1442-200X.2001.01392.x
- By:
- Publication type:
- Article
Molecular diagnosis of patients with β-thalassemia major in central Taiwan by amplified created restriction site analysis.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 4, p. 237, doi. 10.1007/s100380050080
- By:
- Publication type:
- Article
Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.
- Published in:
- Nature Genetics, 2015, v. 47, n. 11, p. 1282, doi. 10.1038/ng.3405
- By:
- Publication type:
- Article
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 904, doi. 10.1038/ng.2352
- By:
- Publication type:
- Article
Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
- Published in:
- Nature Genetics, 2012, v. 44, n. 3, p. 302, doi. 10.1038/ng.1086
- By:
- Publication type:
- Article
Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 3, p. 200, doi. 10.1002/1097-0223(200103)21:3<200::AID-PD31>3.0.CO;2-J
- By:
- Publication type:
- Article
Prenatal diagnosis of Apert syndrome.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 6, p. 621, doi. 10.1002/(SICI)1097-0223(199806)18:6<621::AID-PD307>3.0.CO;2-5
- By:
- 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
- By:
- Publication type:
- Article
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138695
- By:
- Publication type:
- Article
Investigation of Associations between NR1D1, RORA and RORB Genes and Bipolar Disorder.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121245
- By:
- 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
- By:
- Publication type:
- Article
Association between <i>GRIN3A</i> Gene Polymorphism in Kawasaki Disease and Coronary Artery Aneurysms in Taiwanese Children.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081384
- By:
- Publication type:
- Article
Runs of Homozygosity Associated with Speech Delay in Autism in a Taiwanese Han Population: Evidence for the Recessive Model.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072056
- By:
- 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
- By:
- Publication type:
- Article
Osteocalcin gene Hind III polymorphism is not correlated with calcium oxalate stone disease.
- Published in:
- Urological Research, 2001, v. 29, n. 2, p. 98, doi. 10.1007/s002400100169
- By:
- 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
- By:
- Publication type:
- Article
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00178-9
- By:
- Publication type:
- Article
Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07345-0
- By:
- 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
- By:
- Publication type:
- Article
Interleukin-1 Receptor Antagonist Gene Polymorphism in Chinese Patients with Systemic Lupus Erythematosus.
- Published in:
- Clinical Rheumatology, 2002, v. 21, n. 3, p. 255, doi. 10.1007/s10067-002-8292-5
- By:
- Publication type:
- Article
Genome-Wide and Candidate Gene Association Analyses Identify a 14-SNP Combination for Hypertension in Patients With Type 2 Diabetes.
- Published in:
- American Journal of Hypertension, 2021, v. 34, n. 6, p. 651, doi. 10.1093/ajh/hpaa203
- By:
- 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
- By:
- Publication type:
- Article
Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.
- Published in:
- 2021
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 83, doi. 10.1007/s10545-009-9026-5
- By:
- 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
- By:
- Publication type:
- Article
Immunoglobulin profiling identifies unique signatures in patients with Kawasaki disease during intravenous immunoglobulin treatment.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2671, doi. 10.1093/hmg/ddy176
- By:
- Publication type:
- Article
Genetic risk score constructed from common genetic variants is associated with cardiovascular disease risk in type 2 diabetes mellitus.
- Published in:
- Journal of Gene Medicine, 2021, v. 23, n. 2, p. 1, doi. 10.1002/jgm.3305
- By:
- Publication type:
- Article
Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 540, doi. 10.1002/humu.23186
- By:
- Publication type:
- Article
Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling.
- Published in:
- Human Mutation, 2008, v. 29, n. 8, p. 1055, doi. 10.1002/humu.20760
- By:
- Publication type:
- Article
Long contiguous stretches of homozygosity in the human genome.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1115, doi. 10.1002/humu.20399
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Role of IL3RA in a Family with Lumbar Spinal Stenosis.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 10915, doi. 10.3390/ijms252010915
- By:
- Publication type:
- Article
Genetic analysis of chromosome 22q11.2 markers in congenital heart disease.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Rapid screening assay of congenital adrenal hyperplasia by measuring 17 alpha-hydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Relation of polymorphism in the promotor region for the human osteocalcin gene to bone mineral density and occurrence of osteoporosis in postmenopausal Chinese women in Taiwan.
- Published in:
- 2001
- By:
- Publication type:
- journal article
A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 254, doi. 10.1002/humu.1187
- By:
- Publication type:
- Article
A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 356, doi. 10.1002/humu.51
- By:
- Publication type:
- Article
Identification of a polymorphism (D168N) in the XRP2 gene in Chinese.
- Published in:
- Human Mutation, 2001, v. 17, n. 4, p. 354, doi. 10.1002/humu.43
- By:
- Publication type:
- Article
Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese.
- Published in:
- Human Mutation, 2001, v. 17, n. 3, p. 237, doi. 10.1002/humu.13
- By:
- Publication type:
- Article
Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease.
- Published in:
- Human Mutation, 2001, v. 17, n. 3, p. 238, doi. 10.1002/humu.14
- By:
- Publication type:
- Article