Found: 175
Select item for more details and to access through your institution.
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
Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.
- Published in:
- 2018
- By:
- 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
- By:
- Publication type:
- Article
In silico prioritization and further functional characterization of SPINK1 intronic variants.
- Published in:
- Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0103-9
- By:
- 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
- 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
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
- By:
- 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
- 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
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
Idiopathic vs hereditary pancreatitis.
- Published in:
- 2003
- By:
- Publication type:
- commentary
Construction and stability analysis of finite element model for spinal canal reconstruction with miniplates fixation.
- Published in:
- China Journal of Orthopaedics & Traumatology / Zhongguo Gu Shang, 2024, v. 37, n. 3, p. 271, doi. 10.12200/j.issn.1003-0034.20230091
- By:
- Publication type:
- Article
Synthesis and Structural Studies of 1-Deoxybaccatin VI Derivatives.
- Published in:
- Chinese Journal of Chemistry, 2008, v. 26, n. 10, p. 1870, doi. 10.1002/cjoc.200890337
- By:
- Publication type:
- Article
Detection of atmospheric gaseous amines and amides by a high-resolution time-of-flight chemical ionization mass spectrometer with protonated ethanol reagent ions.
- Published in:
- Atmospheric Chemistry & Physics, 2016, v. 16, n. 22, p. 14527, doi. 10.5194/acp-16-14527-2016
- By:
- Publication type:
- Article
Molecular characterization of atmospheric particulate organosulfates in three megacities at the middle and lower reaches of the Yangtze River.
- Published in:
- Atmospheric Chemistry & Physics, 2016, v. 16, n. 4, p. 2285, doi. 10.5194/acp-16-2285-2016
- By:
- 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
- By:
- Publication type:
- Article
Determination of Alkyl Polycyclic Aromatic Hydrocarbons in Dustfall by Supercritical Fluid Extraction Followed by Gas Chromatography/Mass Spectrum.
- Published in:
- Bulletin of Environmental Contamination & Toxicology, 2009, v. 82, n. 2, p. 189, doi. 10.1007/s00128-008-9597-0
- By:
- 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
- By:
- Publication type:
- Article
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
- Published in:
- 2024
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis.
- Published in:
- British Journal of Haematology, 2015, v. 168, n. 5, p. 759, doi. 10.1111/bjh.13145
- By:
- Publication type:
- Article
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
- Published in:
- Nature Genetics, 2013, v. 45, n. 10, p. 1216, doi. 10.1038/ng.2730
- By:
- Publication type:
- Article
Hereditary pancreatitis caused by triplication of the trypsinogen locus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1372, doi. 10.1038/ng1904
- By:
- Publication type:
- Article
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 668, doi. 10.1038/ng1797
- By:
- Publication type:
- Article
The preparation and application of N-terminal 57 amino acid protein of the follicle-stimulating hormone receptor as a candidate male contraceptive vaccine.
- Published in:
- Asian Journal of Andrology, 2014, v. 16, n. 4, p. 623, doi. 10.4103/1008-682X.125910
- By:
- Publication type:
- Article
Directed evolution of a beta-galactosidase from Pyrococcus woesei resulting in increased thermostable beta-glucuronidase activity.
- Published in:
- Applied Microbiology & Biotechnology, 2007, v. 77, n. 3, p. 569, doi. 10.1007/s00253-007-1182-7
- By:
- Publication type:
- Article
High efficiency and throughput system in directed evolution in vitro of reporter gene.
- Published in:
- Applied Microbiology & Biotechnology, 2007, v. 74, n. 1, p. 160, doi. 10.1007/s00253-006-0659-0
- By:
- Publication type:
- Article
High level expression of a synthetic gene encoding Peniophora lycii phytase in methylotrophic yeast Pichia pastoris.
- Published in:
- Applied Microbiology & Biotechnology, 2006, v. 72, n. 5, p. 1039, doi. 10.1007/s00253-006-0384-8
- By:
- 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.
- Published in:
- Journal of Nursing (China), 2024, v. 31, n. 10, p. 59, doi. 10.16460/j.issn1008-9969.2024.10.059
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Interaction between Alcohol Consumption and CYP 2C19 Gene Polymorphism in Relation to Oesophageal Squamous Cell Carcinoma.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0043412
- By:
- Publication type:
- Article
A Thermostable β-Glucuronidase Obtained by Directed Evolution as a Reporter Gene in Transgenic Plants.
- Published in:
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0026773
- By:
- Publication type:
- Article
An Experimental Study of Flow Around a Bio-Inspired Airfoil at Reynolds Number 2.0×10<sup>3</sup>.
- Published in:
- Journal of Hydrodynamics, 2012, v. 24, n. 3, p. 410, doi. 10.1016/S1001-6058(11)60262-X
- By:
- Publication type:
- Article
Strategies for the communication of Chinese Wushu from the perspective of transculture.
- Published in:
- Journal of Physical Education / Tiyu Xuekan, 2008, v. 15, n. 5, p. 25
- By:
- Publication type:
- Article
Risk factors for the Long-Term Efficacy, Recurrence, and Metastasis in Small Hepatocellular Carcinomas.
- Published in:
- Cell Biochemistry & Biophysics, 2015, v. 72, n. 2, p. 627, doi. 10.1007/s12013-015-0514-y
- By:
- Publication type:
- Article
Serum CA242, CA199, CA125, CEA, and TSGF are Biomarkers for the Efficacy and Prognosis of Cryoablation in Pancreatic Cancer Patients.
- Published in:
- Cell Biochemistry & Biophysics, 2015, v. 71, n. 3, p. 1287, doi. 10.1007/s12013-014-0345-2
- By:
- Publication type:
- Article
Characterization of a Glucose-, Xylose-, Sucrose-, and d-Galactose-Stimulated β-Glucosidase from the Alkalophilic Bacterium Bacillus halodurans C-125.
- Published in:
- Current Microbiology, 2011, v. 62, n. 3, p. 833, doi. 10.1007/s00284-010-9766-3
- By:
- 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
- By:
- Publication type:
- Article
Gene conversion: mechanisms, evolution and human disease.
- Published in:
- Nature Reviews Genetics, 2007, v. 8, n. 10, p. 762, doi. 10.1038/nrg2193
- By:
- 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
- By:
- Publication type:
- Article
Genetics of osteoporosis: accelerating pace in gene identification and validation.
- Published in:
- Human Genetics, 2010, v. 127, n. 3, p. 249, doi. 10.1007/s00439-009-0773-z
- By:
- Publication type:
- Article
Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.
- Published in:
- Human Genetics, 2010, v. 127, n. 1, p. 45, doi. 10.1007/s00439-009-0742-6
- By:
- Publication type:
- Article
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.
- Published in:
- Human Genetics, 2008, v. 123, n. 5, p. 521, doi. 10.1007/s00439-008-0508-6
- By:
- Publication type:
- Article
Association of rare chymotrypsinogen C ( CTRC) gene variations in patients with idiopathic chronic pancreatitis.
- Published in:
- Human Genetics, 2008, v. 123, n. 1, p. 83, doi. 10.1007/s00439-007-0459-3
- By:
- 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.
- Published in:
- Human Genetics, 2006, v. 120, n. 3, p. 301, doi. 10.1007/s00439-006-0218-x
- By:
- Publication type:
- Article