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Instruments of Moral Distress: An Analysis Based on Scientificity and Application Value.
- Published in:
- American Journal of Bioethics, 2023, v. 23, n. 4, p. 89, doi. 10.1080/15265161.2023.2186527
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- Article
Security and Sharing of NIPT Data Are the Basis of Ethical Decision-Making Related to Non-Medical Traits.
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- American Journal of Bioethics, 2023, v. 23, n. 3, p. 29, doi. 10.1080/15265161.2023.2169392
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- Article
Clinical predictive value of pre-pregnancy tests for unexplained recurrent spontaneous abortion: a retrospective study.
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2024.1443056
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- Publication type:
- Article
Transcriptome analyses reveal molecular mechanisms of novel compound heterozygous ACO2 variants causing infantile cerebellar retinal degeneration.
- Published in:
- 2024
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- Publication type:
- Case Study
Genetic Analysis of a Case of Sotos Syndrome with Suspected Germinal Mosaicism in Mother.
- Published in:
- 2023
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- Publication type:
- Case Study
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30940-6
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- Publication type:
- Article
Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1447216
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- Publication type:
- Article
Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1447216
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- Publication type:
- Article
Obstetric outcomes for twins from different conception methods - A multicenter cross-sectional study from China.
- Published in:
- 2021
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- Publication type:
- journal article
Selection and Validation of Reference Genes for RT-PCR Expression Analysis of Candidate Genes Involved in Morphine-Induced Conditioned Place Preference Mice.
- Published in:
- Journal of Molecular Neuroscience, 2018, v. 66, n. 4, p. 587, doi. 10.1007/s12031-018-1198-8
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- Publication type:
- Article
Chromatin organizer SATB1 controls the cell identity of CD4<sup>+</sup> CD8<sup>+</sup> double-positive thymocytes by regulating the activity of super-enhancers.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33333-6
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- Publication type:
- Article
Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams–Beuren Syndrome.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 11, p. 1398, doi. 10.1002/pd.6669
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- Publication type:
- Article
Case Report: Twin Pregnancy Gives Birth to a Girl with Partial Trisomy 21 Mosaicism after in vitro Fertilization and Embryo Transfer.
- Published in:
- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.740415
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- Publication type:
- Article
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
- Published in:
- Molecular Medicine Reports, 2018, v. 17, n. 1, p. 172, doi. 10.3892/mmr.2017.7874
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- Publication type:
- Article
Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.
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- Molecular Medicine Reports, 2017, v. 16, n. 5, p. 6222, doi. 10.3892/mmr.2017.7390
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- Publication type:
- Article
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 13, p. 1225, doi. 10.1002/pd.4002
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- Publication type:
- Article
A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63823
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- Publication type:
- Article
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03465-7
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- Publication type:
- Article
Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population.
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- International Journal of Legal Medicine, 2017, v. 131, n. 1, p. 103, doi. 10.1007/s00414-016-1389-1
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- Publication type:
- Article
Phase separation of Epstein-Barr virus EBNA2 protein reorganizes chromatin topology for epigenetic regulation.
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- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02501-7
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- Publication type:
- Article
A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss.
- Published in:
- Human Genetics, 2018, v. 137, n. 6/7, p. 437, doi. 10.1007/s00439-018-1895-y
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- Publication type:
- Article
Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1918
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- Publication type:
- Article
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02705-6
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- Publication type:
- Article
Risk factors and potential protective factors of pregnancy-induced hypertension in China: A cross-sectional study.
- Published in:
- 2019
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- Publication type:
- journal article
Maternal natural killer cell immunoglobulin receptor genes and human leukocyte antigen-C ligands influence recurrent spontaneous abortion in the Han Chinese population.
- Published in:
- Experimental & Therapeutic Medicine, 2018, v. 15, n. 1, p. 327, doi. 10.3892/etm.2017.5406
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- Publication type:
- Article
Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome.
- Published in:
- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1252873
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- Publication type:
- Article
SLC12A1 variant c.1684+1 G>A causes Bartter syndrome type 1 by promoting exon 13 skipping.
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- Nephrology, 2024, v. 29, n. 12, p. 801, doi. 10.1111/nep.14390
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- Publication type:
- Article
Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Developing Defects in Down Syndrome.
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- Journal of Molecular Neuroscience, 2024, v. 74, n. 2, p. 1, doi. 10.1007/s12031-024-02205-7
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- Publication type:
- Article
Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 5, p. 943, doi. 10.1007/s12031-020-01713-6
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- Publication type:
- Article
Methyltransferase METTL3 governs the modulation of SH3BGR expression through m6A methylation modification, imparting influence on apoptosis in the context of Down syndrome-associated cardiac development.
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- Cell Death Discovery, 2024, p. 1, doi. 10.1038/s41420-024-02164-3
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- Publication type:
- Article
Three-way contact analysis characterizes the higher order organization of the Tcra locus.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. 17, p. 8987, doi. 10.1093/nar/gkad641
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- Publication type:
- Article
A Novel Variant of the KIF11 Gene, c.2922G>T, Is Associated with Microcephaly by Affecting RNA Splicing.
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- Developmental Neuroscience, 2022, v. 44, n. 2, p. 113, doi. 10.1159/000518923
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- Publication type:
- Article
Correlation between maternal serum biomarkers and the risk of fetal chromosome copy number variants: a single-center retrospective study.
- Published in:
- Archives of Gynecology & Obstetrics, 2024, v. 310, n. 2, p. 933, doi. 10.1007/s00404-024-07514-1
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- Publication type:
- Article
Integration of ATAC-seq and RNA-seq identifies MX1-mediated AP-1 transcriptional regulation as a therapeutic target for Down syndrome.
- Published in:
- Biological Research, 2023, v. 56, n. 1, p. 1, doi. 10.1186/s40659-023-00474-x
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- Publication type:
- Article
Integrative Analysis Extracts a Core ceRNA Network of the Fetal Hippocampus With Down Syndrome.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.565955
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- Publication type:
- Article
Emerging Roles Of hsa-circ-0046600 Targeting The miR-640/HIF-1α Signalling Pathway In The Progression Of HCC.
- Published in:
- OncoTargets & Therapy, 2019, v. 12, p. 9291, doi. 10.2147/OTT.S229514
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- Publication type:
- Article