Found: 12
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Optimizing peripheral blood chromosome analysis: effects of refrigeration time and blood volume.
- Published in:
- American Journal of Translational Research, 2024, v. 16, n. 4, p. 1237, doi. 10.62347/VZBP5808
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- Publication type:
- Article
Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1429336
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- Publication type:
- Article
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction.
- Published in:
- 2023
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- Publication type:
- Case Study
Detection of four rare thalassemia variants using Single-molecule realtime sequencing.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.974999
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- Publication type:
- Article
Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.
- Published in:
- Molecular Medicine Reports, 2022, v. 25, n. 2, p. N.PAG
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- Publication type:
- Article
Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.765503
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- Publication type:
- Article
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.631688
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- Publication type:
- Article
Application of Copy Number Variation Sequencing in Genetic Analysis of Miscarriages in Early and Middle Pregnancy.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 11/12, p. 634, doi. 10.1159/000512801
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- Publication type:
- Article
Tumor suppressor RIZ1 in obesity and the PI3K/AKT/mTOR pathway.
- Published in:
- 2016
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- Publication type:
- journal article
Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0133421
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- Publication type:
- Article
Scoring the collective effects of SNPs: association of minor alleles with complex traits in model organisms.
- Published in:
- SCIENCE CHINA Life Sciences, 2014, v. 57, n. 9, p. 876, doi. 10.1007/s11427-014-4704-4
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- Publication type:
- Article
The genetic equidistance result: misreading by the molecular clock and neutral theory and reinterpretation nearly half of a century later.
- Published in:
- SCIENCE CHINA Life Sciences, 2013, v. 56, n. 3, p. 254, doi. 10.1007/s11427-013-4452-x
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- Publication type:
- Article