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Identification of VPS35 p.D620N mutation-related Parkinson's disease in a Taiwanese family with successful bilateral subthalamic nucleus deep brain stimulation: a case report and literature review.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.
- Published in:
- 2017
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- Publication type:
- journal article
ABO genotyping with next-generation sequencing to resolve heterogeneity in donors with serology discrepancies.
- Published in:
- 2018
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- Publication type:
- journal article
A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing.
- Published in:
- 2019
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- Publication type:
- journal article
The Clinical Contribution of Full-Field Electroretinography and 8-Year Experiences of Application in a Tertiary Medical Center.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 10, p. 1022, doi. 10.3390/jpm11101022
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- Publication type:
- Article
Traits of Patients With Pituitary Tumors in Multiple Endocrine Neoplasia Type 1 and Comparing Different Mutation Status.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1532, doi. 10.1210/clinem/dgad387
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- Publication type:
- Article
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next‐generation sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2082
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- Publication type:
- Article
Profiling genes encoding the adaptive immune receptor repertoire with gAIRR Suite.
- Published in:
- Frontiers in Immunology, 2022, v. 12, p. 1, doi. 10.3389/fimmu.2022.922513
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- Publication type:
- Article
Genetic study of young‐onset dementia using targeted gene panel sequencing in Taiwan.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2021, v. 186, n. 2, p. 67, doi. 10.1002/ajmg.b.32836
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- Publication type:
- Article
Risk factors related to age at diagnosis of pancreatic cancer: a retrospective cohort pilot study.
- Published in:
- 2022
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- Publication type:
- journal article
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138575
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- Publication type:
- Article
Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057369
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- Publication type:
- Article
Comprehensive Genotyping in Two Homogeneous Graves' Disease Samples Reveals Major and Novel HLA Association Alleles.
- Published in:
- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016635
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- Publication type:
- Article
Metabolic Syndromes as Important Comorbidities in Patients of Inherited Retinal Degenerations: Experiences from the Nationwide Health Database and a Large Hospital-Based Cohort.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 4, p. 2065, doi. 10.3390/ijerph18042065
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- Publication type:
- Article
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00180-1
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- Publication type:
- Article
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1283907
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- Publication type:
- Article
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03238-2
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- Publication type:
- Article
A fault-tolerant method for HLA typing with PacBio data.
- Published in:
- BMC Bioinformatics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2105-15-296
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- Publication type:
- Article
Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphismarray to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
- Published in:
- Human Reproduction, 2015, v. 30, n. 7, p. 1732, doi. 10.1093/humrep/dev095
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- Publication type:
- Article
Genetic Analysis of CARD14 in Non-familial Pityriasis Rubra Pilaris: A Case Series.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
P53 ICE CRIM mouse: a tool to generate mutant allelic series in somatic cells and germ lines for cancer studies.
- Published in:
- FASEB Journal, 2019, v. 33, n. 4, p. 5571, doi. 10.1096/fj.201802027R
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- Publication type:
- Article
Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky- Küster-Hauser syndrome.
- Published in:
- Health Policy & Planning, 2015, v. 30, n. 7, p. 1732, doi. 10.1093/humrep/dev095
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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
Genetics in neovascular age‐related macular degeneration susceptibility and treatment response to anti‐VEGF intravitreal injection: A case series study.
- Published in:
- Clinical & Experimental Ophthalmology, 2024, v. 52, n. 6, p. 655, doi. 10.1111/ceo.14388
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- Publication type:
- Article
An integrative approach for pediatric auditory neuropathy spectrum disorders: revisiting etiologies and exploring the prognostic utility of auditory steady-state response.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66877-y
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- Publication type:
- Article
Distinctive genetic variation of long‐segment Hirschsprung's disease in Taiwan.
- Published in:
- Neurogastroenterology & Motility, 2019, v. 31, n. 11, p. N.PAG, doi. 10.1111/nmo.13665
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- Publication type:
- Article
Comparison of clinical and neuroimaging features between NOTCH3 mutations and nongenetic spontaneous intracerebral haemorrhage.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 11, p. 3243, doi. 10.1111/ene.15485
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- Publication type:
- Article
Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2023, v. 169, n. 5, p. 1299, doi. 10.1002/ohn.354
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- Publication type:
- Article
HAHap: a read-based haplotyping method using hierarchical assembly.
- Published in:
- PeerJ, 2018, p. 1, doi. 10.7717/peerj.5852
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- Publication type:
- Article
Comprehensive Etiologic Analyses in Pediatric Cochlear Implantees and the Clinical Implications.
- Published in:
- Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081846
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- Publication type:
- Article
Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study.
- Published in:
- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071523
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- Publication type:
- Article
The Lupus‐Associated Fcγ Receptor IIb–I232T Polymorphism Results in Impairment in the Negative Selection of Low‐Affinity Germinal Center B Cells Via c‐Abl in Mice.
- Published in:
- Arthritis & Rheumatology, 2018, v. 70, n. 11, p. 1866, doi. 10.1002/art.40555
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- Publication type:
- Article
Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan.
- Published in:
- Pediatric Diabetes, 2018, v. 19, n. 4, p. 699, doi. 10.1111/pedi.12645
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- Publication type:
- Article
Diagnostic rate of germline pathogenic variants in pancreatic ductal adenocarcinoma patients using whole genome sequencing.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1172365
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- Publication type:
- Article
Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47911-3
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- Publication type:
- Article
Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.
- Published in:
- Genes, 2023, v. 14, n. 4, p. 880, doi. 10.3390/genes14040880
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- Publication type:
- Article
Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1378, doi. 10.3390/genes12091378
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- Publication type:
- Article
Hereditary Hearing Impairment with Cutaneous Abnormalities.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 43, doi. 10.3390/genes12010043
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- Publication type:
- Article
Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4 -Associated Retinal Dystrophies.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1421, doi. 10.3390/genes11121421
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- Publication type:
- Article
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 772, doi. 10.3390/genes10100772
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- Publication type:
- Article
Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0209797
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- Publication type:
- Article
Transcriptome Analysis of Mesenchymal Progenitor Cells Revealed Molecular Insights into Metabolic Dysfunction and Inflammation in Polycystic Ovary Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7948, doi. 10.3390/ijms25147948
- By:
- Publication type:
- Article
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
- Published in:
- 2020
- By:
- 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
- By:
- Publication type:
- Article
Phenome-wide analysis of Taiwan Biobank reveals novel glycemia-related loci and genetic risks for diabetes.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-04168-0
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- Publication type:
- Article
Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice‐free course.
- Published in:
- JGH Open, 2022, v. 6, n. 12, p. 839, doi. 10.1002/jgh3.12830
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- Publication type:
- Article
Linkage of Graves’ disease to the human leucocyte antigen region in the Chinese-Han population in Taiwan.
- Published in:
- Clinical Endocrinology, 2007, v. 66, n. 5, p. 646, doi. 10.1111/j.1365-2265.2007.02787.x
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- Publication type:
- Article
Cochlear implantation in LEOPARD syndrome: Our experience with three patients.
- Published in:
- Clinical Otolaryngology, 2022, v. 47, n. 2, p. 341, doi. 10.1111/coa.13895
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- Publication type:
- Article