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Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.
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- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01984-7
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- Article
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01271-7
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- Article
Vertical Displacement Measurement of Tunnel Structures Based on Long-Gauge Fiber Bragg Grating Strain Sensing.
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- Applied Sciences (2076-3417), 2023, v. 13, n. 20, p. 11496, doi. 10.3390/app132011496
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- Article
GSDMD gene knockout alleviates hyperoxia-induced hippocampal brain injury in neonatal mice.
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- Journal of Neuroinflammation, 2023, v. 20, n. 1, p. 1, doi. 10.1186/s12974-023-02878-8
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- Article
Cytoplasmic domain and enzymatic activity of ACE2 are not required for PI4KB dependent endocytosis entry of SARS-CoV-2 into host cells.
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- Virologica Sinica (16740769), 2023, v. 38, n. 2, p. 380, doi. 10.1016/j.virs.2022.03.003
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- Article
GSDMD deficiency ameliorates hyperoxia-induced BPD and ROP in neonatal mice.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-022-27201-y
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- Article
Spike protein mediated membrane fusion during SARS‐CoV‐2 infection.
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- Journal of Medical Virology, 2023, v. 95, n. 1, p. 1, doi. 10.1002/jmv.28212
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- Article
Cytoplasmic domain and enzymatic activity of ACE2 are not required for PI4KB dependent endocytosis entry of SARS-CoV-2 into host cells.
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- Virologica Sinica (16740769), 2022, v. 37, n. 3, p. 380, doi. 10.1016/j.virs.2022.03.003
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- Article
A QoS-Based Fairness-Aware BBR Congestion Control Algorithm Using QUIC.
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- Wireless Communications & Mobile Computing, 2022, p. 1, doi. 10.1155/2022/7222030
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- Article
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 401, doi. 10.1007/s00439-022-02440-1
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- Article
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 853, doi. 10.1007/s00439-021-02340-w
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- Article
Hyperoxia-activated circulating extracellular vesicles induce lung and brain injury in neonatal rats.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-87706-w
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- Article
Author Correction: Hyperoxia-activated circulating extracellular vesicles induce lung and brain injury in neonatal rats.
- Published in:
- 2021
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- Correction Notice
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1770
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- Article
Hyperoxia-activated circulating extracellular vesicles induce lung and brain injury in neonatal rats.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-87706-w
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- Publication type:
- Article
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1591
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- Article
A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1520
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- Article
Chemical Constituents of the Fruit Husk of Xanthoceras sorbifolia.
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- Chemistry of Natural Compounds, 2020, v. 56, n. 2, p. 325, doi. 10.1007/s10600-020-03020-3
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- Article
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.685
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- Article
Combination of Traditional Chinese Medicine and Low-Molecular-Weight Heparin Prevents Deep Vein Thrombosis After Surgery: A Meta-Analysis.
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- Clinical & Applied Thrombosis/Hemostasis, 2019, v. 25, p. 1, doi. 10.1177/1076029619890411
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- Article
NHC‐Catalyzed Enantioselective [4+3] Cycloaddition of Ortho‐Hydroxyphenyl Substituted Para‐Quinone Methides with Isatin‐Derived Enals.
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- Advanced Synthesis & Catalysis, 2018, v. 360, n. 13, p. 2460, doi. 10.1002/adsc.201800337
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- Article
Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique.
- Published in:
- Disease Markers, 2018, p. 1, doi. 10.1155/2018/5298057
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- Article
Gene screening facilitates diagnosis of complicated symptoms: A case report.
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- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 7915, doi. 10.3892/mmr.2017.7590
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- Article
Closed-Tube Barcoding<sup>1</sup>.
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- Genome, 2016, v. 59, n. 11, p. 1049, doi. 10.1139/gen-2016-0026
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- Article
Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
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- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165650
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- Article
Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.
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- EMBO Molecular Medicine, 2016, v. 8, n. 3, p. 191, doi. 10.15252/emmm.201505523
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- Article
Identification and evaluation of the chemical similarity of Yindan xinnaotong samples by ultra high performance liquid chromatography with quadrupole time-of-flight mass spectrometry fingerprinting.
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- Journal of Separation Science, 2016, v. 39, n. 3, p. 611, doi. 10.1002/jssc.201500836
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- Article
Chemical Constituents of Saxifraga umbellulata.
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- Chemistry of Natural Compounds, 2015, v. 51, n. 2, p. 330, doi. 10.1007/s10600-015-1273-0
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- Article
Whole-Exome Sequencing Identifies a Variant in TMEM132 E Causing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99.
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- Human Mutation, 2015, v. 36, n. 1, p. 98, doi. 10.1002/humu.22712
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- Article
Exome Sequencing Identifies a Novel Frameshift Mutation of MYO6 as the Cause of Autosomal Dominant Nonsyndromic Hearing Loss in a Chinese Family.
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- Annals of Human Genetics, 2014, v. 78, n. 6, p. 410, doi. 10.1111/ahg.12084
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- Article
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.
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- Cell Research, 2014, v. 24, n. 11, p. 1370, doi. 10.1038/cr.2014.77
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- Article
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.
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- Journal of Human Genetics, 2014, v. 59, n. 11, p. 599, doi. 10.1038/jhg.2014.78
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- Article
A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family.
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- European Archives of Oto-Rhino-Laryngology, 2014, v. 271, n. 6, p. 1589, doi. 10.1007/s00405-013-2788-2
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- Article
Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.
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- BMC Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2156-15-26
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- Article
MicroRNA-20a Constrains p300-Driven Myocardial Angiogenic Transcription by Direct Targeting of p300.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079133
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- Article
Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II.
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- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077149
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- Article
Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3).
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0073245
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- Article
Identification of a Novel <i>TECTA</i> Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Sensorineural Hearing Impairment.
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- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0070134
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- Article
A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045464
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- Article
Repression of miR-142 by p300 and MAPK is required for survival signalling via gp130 during adaptive hypertrophy.
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- EMBO Molecular Medicine, 2012, v. 4, n. 7, p. 617, doi. 10.1002/emmm.201200234
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- Article
Diurnal and Seasonal Patterns of Methane Emissions from a Dairy Operation in North China Plain.
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- Advances in Meteorology, 2011, v. 2011, p. 1, doi. 10.1155/2011/190234
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- Article
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.
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- Journal of Human Genetics, 2011, v. 56, n. 1, p. 64, doi. 10.1038/jhg.2010.147
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- Article
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
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- Human Genetics, 2009, v. 125, n. 1, p. 53, doi. 10.1007/s00439-008-0602-9
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- Article
GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment.
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- Journal of Translational Medicine, 2009, v. 7, p. 1, doi. 10.1186/1479-5876-7-26
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- Article
Production of Low Acid Value Edible Oil with Reduced TFAs by Electrochemical Hydrogenation in a Diaphragm Reactor.
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- Journal of the American Oil Chemists' Society (JAOCS), 2008, v. 85, n. 11, p. 1087, doi. 10.1007/s11746-008-1294-y
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- Article
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 16, p. 1709, doi. 10.1093/hmg/10.16.1709
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- Article