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Familial pityriasis rubra pilaris in a Chinese family caused by a novel mutation in CARD14 gene.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04325-1
- By:
- Publication type:
- Article
Abnormal alanine aminotransferase levels in patients with moderate or severe ovarian hyperstimulation result in an increased risk of obstetric complications.
- Published in:
- International Journal of Gynecology & Obstetrics, 2023, v. 162, n. 3, p. 913, doi. 10.1002/ijgo.14749
- By:
- Publication type:
- Article
Stretch on the L5 nerve root in high-grade spondylolisthesis reduction.
- Published in:
- Journal of Neurosurgery: Spine, 2022, v. 37, n. 2, p. 232, doi. 10.3171/2021.12.SPINE211237
- By:
- Publication type:
- Article
Insights Into Ferroptosis: Targeting Glycolysis to Treat Graves' Orbitopathy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 7, p. 1994, doi. 10.1210/clinem/dgac163
- By:
- Publication type:
- Article
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 33, doi. 10.1007/s00439-022-02479-0
- By:
- Publication type:
- Article
Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1835
- By:
- Publication type:
- Article
Impact of ultrasonography on identifying noninvasive prenatal screening false‐negative aneuploidy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1213
- By:
- Publication type:
- Article
A platform of high-density INDEL/CAPS markers for map-based cloning in Arabidopsis.
- Published in:
- Plant Journal, 2010, v. 63, n. 5, p. 880, doi. 10.1111/j.1365-313X.2010.04277.x
- By:
- Publication type:
- Article
AHD2.0: an update version of Arabidopsis Hormone Database for plant systematic studies.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. suppl_1, p. D1123, doi. 10.1093/nar/gkq1066
- By:
- Publication type:
- Article
Lack of evidence for existence of noncanonical RNA editing.
- Published in:
- Nature Biotechnology, 2013, v. 31, n. 1, p. 19, doi. 10.1038/nbt.2472
- By:
- Publication type:
- Article
The difficult calls in RNA editing.
- Published in:
- 2012
- By:
- Publication type:
- Question & Answer
Comprehensive analysis of RNA-Seq data reveals extensive RNA editing in a human transcriptome.
- Published in:
- Nature Biotechnology, 2012, v. 30, n. 3, p. 253, doi. 10.1038/nbt.2122
- By:
- Publication type:
- Article
Genome-wide association study dissects the genetic architecture of oil biosynthesis in maize kernels.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 43, doi. 10.1038/ng.2484
- By:
- Publication type:
- Article
AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs.
- Published in:
- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08011-4
- By:
- Publication type:
- Article
Development and clinical validation of a circulating tumor DNA test for the identification of clinically actionable mutations in nonsmall cell lung cancer.
- Published in:
- Genes, Chromosomes & Cancer, 2018, v. 57, n. 4, p. 211, doi. 10.1002/gcc.22522
- By:
- Publication type:
- Article
Comparative mRNA and microRNA Expression Profiling of Three Genitourinary Cancers Reveals Common Hallmarks and Cancer-Specific Molecular Events.
- Published in:
- PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022570
- By:
- Publication type:
- Article
Integrated Profiling of MicroRNAs and mRNAs: MicroRNAs Located on Xq27.3 Associate with Clear Cell Renal Cell Carcinoma.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015224
- By:
- Publication type:
- Article
Test development, optimization and validation of a WGS pipeline for genetic disorders.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01495-x
- By:
- Publication type:
- Article
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01293-x
- By:
- Publication type:
- Article
The effect of hemolysis on quality control metrics for noninvasive prenatal testing.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01280-2
- By:
- Publication type:
- Article
Noninvasive prenatal diagnosis of monogenic disorders based on direct haplotype phasing through targeted linked-read sequencing.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-01091-x
- By:
- Publication type:
- Article
Concurrent hearing and genetic screening in a general newborn population.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 521, doi. 10.1007/s00439-020-02118-6
- By:
- Publication type:
- Article
Analysis of the Results of Cytomegalovirus Testing Combined with Genetic Testing in Children with Congenital Hearing Loss.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 18, p. N.PAG, doi. 10.3390/jcm11185335
- By:
- Publication type:
- Article
Carrier rate of thalassemia among 25,910 high school students in Shaoguan area, China.
- Published in:
- Journal of Medical Screening, 2024, v. 31, n. 1, p. 53, doi. 10.1177/09691413231188069
- By:
- Publication type:
- Article
A Piecewise Bound Constrained Optimization for Harmonic Responsibilities Assessment under Utility Harmonic Impedance Changes.
- Published in:
- Energies (19961073), 2017, v. 10, n. 7, p. 936, doi. 10.3390/en10070936
- By:
- Publication type:
- Article
Possible pathogenic mechanism of gluteal pain in lumbar disc hernia.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Recurrent neural network for predicting absence of heterozygosity from low pass WGS with ultra-low depth.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10400-4
- By:
- Publication type:
- Article
Learning curve and clinical outcomes of percutaneous endoscopic transforaminal decompression for lumbar spinal stenosis.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Outcomes of percutaneous endoscopic trans-articular discectomy for huge central or paracentral lumbar disc herniation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genome-Wide Analysis of DNA Methylation and Gene Expression Changes in Two Arabidopsis Ecotypes and Their Reciprocal Hybrids.
- Published in:
- Plant Cell, 2012, v. 24, n. 3, p. 875, doi. 10.1105/tpc.111.094870
- By:
- Publication type:
- Article
A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.
- Published in:
- BioMed Research International, 2018, p. 1, doi. 10.1155/2018/1460835
- By:
- Publication type:
- Article
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-019-57335-5
- By:
- Publication type:
- Article
RNA-seq analysis of prostate cancer in the Chinese population identifies recurrent gene fusions, cancer-associated long noncoding RNAs and aberrant alternative splicings.
- Published in:
- Cell Research, 2013, v. 23, n. 5, p. 732, doi. 10.1038/cr.2013.61
- By:
- Publication type:
- Article
RNA-seq analysis of prostate cancer in the Chinese population identifies recurrent gene fusions, cancer-associated long noncoding RNAs and aberrant alternative splicings.
- Published in:
- Cell Research, 2012, v. 22, n. 5, p. 806, doi. 10.1038/cr.2012.30
- By:
- Publication type:
- Article
The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 7, p. 763, doi. 10.1093/clinchem/hvad046
- By:
- Publication type:
- Article
Caste-specific RNA editomes in the leaf-cutting ant Acromyrmex echinatior.
- Published in:
- Nature Communications, 2014, v. 5, n. 9, p. 4943, doi. 10.1038/ncomms5943
- By:
- Publication type:
- Article
RNA sequencing reveals the complex regulatory network in the maize kernel.
- Published in:
- Nature Communications, 2013, v. 4, n. 12, p. 2832, doi. 10.1038/ncomms3832
- By:
- Publication type:
- Article
β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Energy-based swing-up control for a two-link underactuated robot with flexible first joint.
- Published in:
- Nonlinear Dynamics, 2023, v. 111, n. 1, p. 289, doi. 10.1007/s11071-022-07831-7
- By:
- Publication type:
- Article
Adaptive fault‐tolerant attitude tracking control for hypersonic vehicle with unknown inertial matrix and states constraints.
- Published in:
- IET Control Theory & Applications (Wiley-Blackwell), 2023, v. 17, n. 10, p. 1397, doi. 10.1049/cth2.12470
- By:
- Publication type:
- Article
A comprehensive assessment of Next‐Generation Sequencing variants validation using a secondary technology.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.748
- By:
- Publication type:
- Article
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-83493-6
- By:
- Publication type:
- Article
Author Correction: Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00948-5
- By:
- Publication type:
- Article
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00906-1
- By:
- Publication type:
- Article
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0600-x
- By:
- Publication type:
- Article
Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0531-6
- By:
- Publication type:
- Article
Quantitative T1 mapping MRI for the assessment of extraocular muscle fibrosis in thyroid-associated ophthalmopathy.
- Published in:
- Endocrine (1355008X), 2022, v. 75, n. 2, p. 456, doi. 10.1007/s12020-021-02873-0
- By:
- Publication type:
- Article
Utility of Whole Genome Sequencing for Population Screening of Deafness-Related Genetic Variants and Cytomegalovirus Infection in Newborns.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.883617
- By:
- Publication type:
- Article