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Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
- Published in:
- 2020
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- Publication type:
- journal article
Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.
- Published in:
- 2018
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- Publication type:
- journal article
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
- Published in:
- Human Genomics, 2018, v. 12, p. 1, doi. 10.1186/s40246-018-0135-9
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- Publication type:
- Article
Isolated and characterization of a cDNA encoding ethylene-responsive element binding protein (EREBP)/AP2-type protein, RCBF2, in Oryza sativa L.
- Published in:
- Biotechnology Letters, 2007, v. 29, n. 1, p. 165, doi. 10.1007/s10529-006-9214-4
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- Publication type:
- Article
Transcranial direct current stimulation improves the swallowing function in patients with cricopharyngeal muscle dysfunction following a brainstem stroke.
- Published in:
- 2020
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- Publication type:
- journal article
Splicing Outcomes of 5′ Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.701652
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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
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
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- Publication type:
- Article
The Application of Eight-Segment Pulmonary Rehabilitation Exercise in People With Coronavirus Disease 2019.
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- Frontiers in Physiology, 2020, v. 11, p. 1, doi. 10.3389/fphys.2020.00646
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- Publication type:
- Article
Idiopathic vs hereditary pancreatitis.
- Published in:
- 2003
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- Publication type:
- commentary
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
Synthesis and Structural Studies of 1-Deoxybaccatin VI Derivatives.
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- Chinese Journal of Chemistry, 2008, v. 26, n. 10, p. 1870, doi. 10.1002/cjoc.200890337
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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
Determination of Alkyl Polycyclic Aromatic Hydrocarbons in Dustfall by Supercritical Fluid Extraction Followed by Gas Chromatography/Mass Spectrum.
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- Bulletin of Environmental Contamination & Toxicology, 2009, v. 82, n. 2, p. 189, doi. 10.1007/s00128-008-9597-0
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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.
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- Human Genetics, 2022, v. 141, n. 8, p. 1327, doi. 10.1007/s00439-022-02436-x
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- Publication type:
- Article
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
- Published in:
- 2024
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- Publication type:
- Case Study
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
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- Publication type:
- Article
On Connected Components of Skew Group Algebras.
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- Acta Mathematica Sinica, 2023, v. 39, n. 5, p. 799, doi. 10.1007/s10114-022-1237-9
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- Publication type:
- 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
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- Publication type:
- Article
Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis.
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- British Journal of Haematology, 2015, v. 168, n. 5, p. 759, doi. 10.1111/bjh.13145
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- Publication type:
- Article
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
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- Nature Genetics, 2013, v. 45, n. 10, p. 1216, doi. 10.1038/ng.2730
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- Publication type:
- Article
Current status of aneurysmal dilatation at puncture segment of arteriovenous fistula in maintenance hemodialysis patients and its influencing factors: a 306-case study.
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- 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
Fine Mapping of <i>qRC10-2</i>, a Quantitative Trait Locus for Cold Tolerance of Rice Roots at Seedling and Mature Stages.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096046
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- Publication type:
- Article
A Missense Mutation in the Alpha-Actinin 1 Gene (<i>ACTN1</i>) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074728
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- Publication type:
- Article
A Conservative Assessment of the Major Genetic Causes of Idiopathic Chronic Pancreatitis: Data from a Comprehensive Analysis of <i>PRSS1</i>, <i>SPINK1</i>, <i>CTRC</i> and <i>CFTR</i> Genes in 253 Young French Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073522
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- Publication type:
- Article
An Experimental Study of Flow Around a Bio-Inspired Airfoil at Reynolds Number 2.0×10<sup>3</sup>.
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- Journal of Hydrodynamics, 2012, v. 24, n. 3, p. 410, doi. 10.1016/S1001-6058(11)60262-X
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- Publication type:
- Article
Strategies for the communication of Chinese Wushu from the perspective of transculture.
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- Journal of Physical Education / Tiyu Xuekan, 2008, v. 15, n. 5, p. 25
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- Publication type:
- Article
Risk factors for the Long-Term Efficacy, Recurrence, and Metastasis in Small Hepatocellular Carcinomas.
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- Cell Biochemistry & Biophysics, 2015, v. 72, n. 2, p. 627, doi. 10.1007/s12013-015-0514-y
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- Publication type:
- Article
Serum CA242, CA199, CA125, CEA, and TSGF are Biomarkers for the Efficacy and Prognosis of Cryoablation in Pancreatic Cancer Patients.
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- Cell Biochemistry & Biophysics, 2015, v. 71, n. 3, p. 1287, doi. 10.1007/s12013-014-0345-2
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- Publication type:
- Article
Effects of Plant Foliar Fertilizer Silamol on the Seed Production of Hybrid Rice.
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- 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
Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 589, doi. 10.1007/s00439-015-1539-4
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- Publication type:
- Article
A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants.
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- Human Genetics, 2006, v. 120, n. 3, p. 301, doi. 10.1007/s00439-006-0218-x
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- Publication type:
- Article
Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.
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- Human Genetics, 2001, v. 109, n. 3, p. 245, doi. 10.1007/s004390100580
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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.
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- Cancers, 2021, v. 13, n. 3, p. 481, doi. 10.3390/cancers13030481
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- Publication type:
- Article
Osteofibrous dysplasia of metacarpus: a case report.
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- China Journal of Orthopaedics & Traumatology / Zhongguo Gu Shang, 2016, v. 29, n. 6, p. 570, doi. 10.3969/j.issn.1003-0034.2016.06.018
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- Publication type:
- Article
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 277, doi. 10.1038/ejhg.2011.186
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- Publication type:
- Article
Assessing the pathological relevance of SPINK1 promoter variants.
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- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1066, doi. 10.1038/ejhg.2011.79
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- Publication type:
- Article
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
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- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1204, doi. 10.1038/sj.ejhg.5201684
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- Publication type:
- Article
'Gain of function' PRSS1 mutations are rare in ICP.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 108, doi. 10.1038/sj.ejhg.5200945
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- Publication type:
- Article
Molecular basis of hereditary pancreatitis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 473, doi. 10.1038/sj.ejhg.5200492
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- Publication type:
- Article
Synthesis and crystal structure of 7,9-dideacetyl-1-deoxybaccatinVI.
- Published in:
- Journal of Chemical Crystallography, 2006, v. 36, n. 5, p. 337, doi. 10.1007/s10870-006-9069-5
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- Publication type:
- Article
Quantitative and Fiber-Selective Evaluation for Central Poststroke Pain.
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- Neural Plasticity, 2022, p. 1, doi. 10.1155/2022/1507291
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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
Discovery, phylogeny and expression patterns of AP2-like genes in maize.
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- Plant Growth Regulation, 2010, v. 62, n. 1, p. 51, doi. 10.1007/s10725-010-9484-7
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- Publication type:
- Article
Secretory expression and characterization of a soluble laccase from the Ganoderma lucidum strain 7071-9 in Pichia pastoris.
- Published in:
- Molecular Biology Reports, 2012, v. 39, n. 4, p. 3807, doi. 10.1007/s11033-011-1158-7
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- Publication type:
- Article
SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER‐to‐Golgi Transport and Inducing ER Stress.
- Published in:
- Advanced Science, 2024, v. 11, n. 38, p. 1, doi. 10.1002/advs.202402550
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- 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
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- Publication type:
- Article
Robust design of rock slopes with multiple failure modes: modeling uncertainty of estimated parameter statistics with fuzzy number.
- Published in:
- Environmental Earth Sciences, 2014, v. 72, n. 8, p. 2957, doi. 10.1007/s12665-014-3201-1
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- 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
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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