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A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Current status of aneurysmal dilatation at puncture segment of arteriovenous fistula in maintenance hemodialysis patients and its influencing factors: a 306-case study.
- Published in:
- Journal of Nursing (China), 2024, v. 31, n. 10, p. 59, doi. 10.16460/j.issn1008-9969.2024.10.059
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- Publication type:
- Article
The relationship between social support and professional identity of health professional students from a two-way social support theory perspective: chain mediating effects of achievement motivation and meaning in life.
- Published in:
- BMC Medical Education, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12909-024-05391-5
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- Publication type:
- Article
Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.
- Published in:
- Lipids in Health & Disease, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12944-024-02086-0
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- Publication type:
- Article
Construction and stability analysis of finite element model for spinal canal reconstruction with miniplates fixation.
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- China Journal of Orthopaedics & Traumatology / Zhongguo Gu Shang, 2024, v. 37, n. 3, p. 271, doi. 10.12200/j.issn.1003-0034.20230091
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- Publication type:
- Article
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00586-9
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- Publication type:
- Article
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date.
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- Lipids in Health & Disease, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12944-023-01898-w
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- Publication type:
- Article
The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function.
- Published in:
- Lipids in Health & Disease, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12944-023-01875-3
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- Publication type:
- Article
On Connected Components of Skew Group Algebras.
- Published in:
- Acta Mathematica Sinica, 2023, v. 39, n. 5, p. 799, doi. 10.1007/s10114-022-1237-9
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- Publication type:
- Article
Competing endogenous RNA network analysis of the molecular mechanisms of ischemic stroke.
- Published in:
- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09163-1
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- Publication type:
- Article
Effects of non-invasive brain stimulation on motor function after spinal cord injury: a systematic review and meta-analysis.
- Published in:
- Journal of NeuroEngineering & Rehabilitation (JNER), 2023, v. 20, n. 1, p. 1, doi. 10.1186/s12984-023-01129-4
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- Publication type:
- Article
Influence of High-Frequency Repetitive Transcranial Magnetic Stimulation on Neurobehavioral and Electrophysiology in Patients with Disorders of Consciousness.
- Published in:
- Neural Plasticity, 2022, p. 1, doi. 10.1155/2022/7195699
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- Publication type:
- Article
Assessment of the impacts of cloud chemistry on surface SO2 and sulfate levels in typical regions of China.
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- Atmospheric Chemistry & Physics Discussions, 2022, p. 1, doi. 10.5194/acp-2022-716
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- Publication type:
- Article
Plasma levels of interleukin‐8 and response to paroxetine in patients with major depressive disorder.
- Published in:
- Human Psychopharmacology: Clinical & Experimental, 2022, v. 37, n. 6, p. 1, doi. 10.1002/hup.2855
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- Publication type:
- Article
Expanding ACMG variant classification guidelines into a general framework.
- Published in:
- Human Genomics, 2022, v. 16, n. 1, p. 1, doi. 10.1186/s40246-022-00407-x
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- Publication type:
- Article
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis.
- Published in:
- Human Genetics, 2022, v. 141, n. 8, p. 1327, doi. 10.1007/s00439-022-02436-x
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- Publication type:
- Article
Quantitative and Fiber-Selective Evaluation for Central Poststroke Pain.
- Published in:
- Neural Plasticity, 2022, p. 1, doi. 10.1155/2022/1507291
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- Publication type:
- Article
Effects of Lisdexamfetamine, a Prodrug of D-Amphetamine, on Locomotion, Spatial Cognitive Processing and Neurochemical Profiles in Rats: A Comparison With Immediate-Release Amphetamine.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.885574
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- Publication type:
- Article
Growth and properties of hydrogenated microcrystalline silicon thin films prepared by magnetron sputtering with different substrate temperatures.
- Published in:
- Rare Metals, 2022, v. 41, n. 3, p. 1037, doi. 10.1007/s12598-015-0510-9
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- Publication type:
- Article
Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.691534
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- Publication type:
- Article
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
- Published in:
- Human Mutation, 2022, v. 43, n. 2, p. 228, doi. 10.1002/humu.24315
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- Publication type:
- Article
Effects of Plant Foliar Fertilizer Silamol on the Seed Production of Hybrid Rice.
- Published in:
- Fujian Agricultural Science & Technology, 2022, v. 53, n. 1, p. 54, doi. 10.13651/j.cnki.fjnykj.2022.01.010
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- Publication type:
- Article
Involvement of the nociceptin opioid peptide receptor in morphine-induced antinociception, tolerance and physical dependence in female mice.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 8, p. 2243, doi. 10.1007/s11011-021-00783-8
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- Publication type:
- Article
Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1683, doi. 10.3390/genes12111683
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- Publication type:
- Article
Association study of CREB1 gene with depression and bipolar disorder type II.
- Published in:
- Journal of Shanghai Jiaotong University (Medical Science), 2021, v. 41, n. 10, p. 1303, doi. 10.3969/j.issn.1674-8115.2021.10.005
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- Publication type:
- Article
Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.701652
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- Publication type:
- Article
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression.
- Published in:
- Transfusion, 2021, v. 61, n. 8, p. 2468, doi. 10.1111/trf.16538
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- Publication type:
- Article
Novel Homozygous Inactivating Mutation in the PCSK1 Gene in an Infant with Congenital Malabsorptive Diarrhea.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 710, doi. 10.3390/genes12050710
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- Publication type:
- Article
Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.640859
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- Publication type:
- Article
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 471, doi. 10.3390/genes12040471
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- Publication type:
- Article
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 385, doi. 10.1002/humu.24178
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- Publication type:
- Article
Asian Population Is More Prone to Develop High-Risk Myelodysplastic Syndrome, Concordantly with Their Propensity to Exhibit High-Risk Cytogenetic Aberrations.
- Published in:
- Cancers, 2021, v. 13, n. 3, p. 481, doi. 10.3390/cancers13030481
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- Publication type:
- Article
The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency.
- Published in:
- Human Mutation, 2021, v. 42, n. 2, p. 216, doi. 10.1002/humu.24153
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- Publication type:
- Article
Tanshinone IIA Alleviates CCL2-Induced Leaning memory and Cognition Impairment in Rats: A Potential Therapeutic Approach for HIV-Associated Neurocognitive Disorder.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/2702175
- By:
- Publication type:
- Article
Corrigendum to "Tanshinone IIA Alleviates CCL2-Induced Leaning memory and Cognition Impairment in Rats: A Potential Therapeutic Approach for HIV-Associated Neurocognitive Disorder".
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/5834542
- By:
- Publication type:
- Article
EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.607838
- By:
- Publication type:
- Article
Identifying the Risk of SARS-CoV-2 Infection and Environmental Monitoring in Airborne Infectious Isolation Rooms (AIIRs).
- Published in:
- Virologica Sinica (16740769), 2020, v. 35, n. 6, p. 785, doi. 10.1007/s12250-020-00301-7
- By:
- Publication type:
- Article
Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1349, doi. 10.3390/genes11111349
- By:
- Publication type:
- Article
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1358, doi. 10.1002/humu.24029
- By:
- Publication type:
- Article
The Application of Eight-Segment Pulmonary Rehabilitation Exercise in People With Coronavirus Disease 2019.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. 1, doi. 10.3389/fphys.2020.00646
- By:
- Publication type:
- Article
Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.
- Published in:
- Lipids in Health & Disease, 2020, v. 19, n. 1, p. 1, doi. 10.1186/s12944-020-01249-z
- By:
- Publication type:
- Article
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1048
- By:
- Publication type:
- Article
Transcranial direct current stimulation improves the swallowing function in patients with cricopharyngeal muscle dysfunction following a brainstem stroke.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Naringin provides neuroprotection in CCL2-induced cognition impairment by attenuating neuronal apoptosis in the hippocampus.
- Published in:
- Behavioral & Brain Functions, 2020, v. 16, n. 1, p. 1, doi. 10.1186/s12993-020-00166-6
- By:
- Publication type:
- Article
Tanshinone IIA Alleviates CCL2-Induced Leaning memory and Cognition Impairment in Rats: A Potential Therapeutic Approach for HIV-Associated Neurocognitive Disorder.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/2702175
- By:
- Publication type:
- Article
Common variants in glyoxalase I do not increase chronic pancreatitis risk.
- Published in:
- PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0222927
- By:
- Publication type:
- Article
Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses.
- Published in:
- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00835
- By:
- Publication type:
- Article
Effect of an indwelling nasogastric tube on swallowing function in elderly post-stroke dysphagia patients with long-term nasal feeding.
- Published in:
- 2019
- By:
- Publication type:
- journal article
On Tubular Tilting Objects in the Stable Category of Vector Bundles.
- Published in:
- Acta Mathematica Sinica, 2019, v. 35, n. 4, p. 494, doi. 10.1007/s10114-018-8187-2
- By:
- Publication type:
- Article