Found: 57
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FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Autophagy Promoted the Degradation of Mutant ATXN3 in Neurally Differentiated Spinocerebellar Ataxia-3 Human Induced Pluripotent Stem Cells.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6701793
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- Publication type:
- Article
Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.727233
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- Publication type:
- Article
Prader-Willi Syndrome With a Long-Contiguous Stretch of Homozygosity Not Covering the Critical Region.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 3, p. 371, doi. 10.1177/0883073814535492
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- Publication type:
- Article
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3347, doi. 10.1093/brain/awad071
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- Publication type:
- Article
Is Chromosome 15q13.3 Duplication Involving CHRNA7 Associated With Oral Clefts?
- Published in:
- Child Neurology Open, 2015, v. 2, n. 4, p. 1, doi. 10.1177/2329048X15618918
- By:
- Publication type:
- Article
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2121
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- Publication type:
- Article
Partial Oxygen Pressure Affects the Expression of Prognostic Biomarkers HIF-1 Alpha, Ki67, and CK20 in the Microenvironment of Colorectal Cancer Tissue.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2016, p. 1, doi. 10.1155/2016/1204715
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- Publication type:
- Article
MiR-6875-3p promotes the proliferation, invasion and metastasis of hepatocellular carcinoma via BTG2/FAK/Akt pathway.
- Published in:
- Journal of Experimental & Clinical Cancer Research (17569966), 2019, v. 38, n. 1, p. N.PAG, doi. 10.1186/s13046-018-1020-z
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- Publication type:
- Article
The phenomena of balanced effect between α-globin gene and of β-globin gene.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0659-9
- By:
- Publication type:
- Article
Combined Hepatocellular-Cholangiocarcinoma with Fever of Unknown Origin: A Case Report and Review of Literature.
- Published in:
- Cell Biochemistry & Biophysics, 2014, v. 69, n. 1, p. 1, doi. 10.1007/s12013-013-9760-z
- By:
- Publication type:
- Article
MSCs derived from amniotic fluid and umbilical cord require different administration schemes and exert different curative effects on different tissues in rats with CLP-induced sepsis.
- Published in:
- Stem Cell Research & Therapy, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13287-021-02218-8
- By:
- Publication type:
- Article
Up-regulation of miR-1245 by c-myc targets BRCA2 and impairs DNA repair.
- Published in:
- Journal of Molecular Cell Biology, 2012, v. 4, n. 2, p. 108, doi. 10.1093/jmcb/mjr046
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- Publication type:
- Article
A retrospective analysis of MS/MS screening for IEM in high-risk areas.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01483-1
- By:
- Publication type:
- Article
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
RS12574989 and haplotype associated with α/β-chain imbalance and population HbA2 reduction.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01333-6
- By:
- Publication type:
- Article
CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent stem cells.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Multi-omics study unravels gut microbiota and metabolites alteration in patients with Wilson's disease.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71740-5
- By:
- Publication type:
- Article
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00608-y
- By:
- Publication type:
- Article
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.
- Published in:
- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00599-w
- By:
- Publication type:
- Article
Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00568-9
- By:
- Publication type:
- Article
Copy number variations independently induce autism spectrum disorder.
- Published in:
- Bioscience Reports, 2017, v. 37, n. 4, p. 1, doi. 10.1042/BSR20160570
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- Publication type:
- Article
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
- Published in:
- Clinical Respiratory Journal, 2017, v. 11, n. 6, p. 696, doi. 10.1111/crj.12401
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- Publication type:
- Article
Psychomotor retardation with a 1q42.11- q42.12 deletion.
- Published in:
- Hereditas, 2017, v. 154, p. 1, doi. 10.1186/s41065-016-0022-0
- By:
- Publication type:
- Article
Sarcomatoid carcinoma of the pancreas: A case report and review of the literature.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Effect of end-to-end invagination pancreaticojejunostomy with circle discontinuous U suture in pancreatic surgery.
- Published in:
- Frontiers of Medicine in China, 2007, v. 1, n. 1, p. 46, doi. 10.1007/s11684-007-0009-3
- By:
- Publication type:
- Article
Mesenchymal stem cells from different sources show distinct therapeutic effects in hyperoxia‐induced bronchopulmonary dysplasia in rats.
- Published in:
- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 17, p. 8558, doi. 10.1111/jcmm.16817
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- Publication type:
- Article
Different culture method changing CD105 expression in amniotic fluid MSCs without affecting differentiation ability or immune function.
- Published in:
- Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 7, p. 4212, doi. 10.1111/jcmm.15081
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- Publication type:
- Article
Efficient gene correction of an aberrant splice site in β‐thalassaemia iPSCs by CRISPR/Cas9 and single‐strand oligodeoxynucleotides.
- Published in:
- Journal of Cellular & Molecular Medicine, 2019, v. 23, n. 12, p. 8046, doi. 10.1111/jcmm.14669
- By:
- Publication type:
- Article
In situ correction of various β-thalassemia mutations in human hematopoietic stem cells.
- Published in:
- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2023.1276890
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- Publication type:
- Article
Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families.
- Published in:
- Experimental & Therapeutic Medicine, 2015, v. 9, n. 3, p. 823, doi. 10.3892/etm.2015.2200
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- Publication type:
- Article
22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder.
- Published in:
- Biomedical Reports, 2017, v. 7, n. 1, p. 51, doi. 10.3892/br.2017.923
- By:
- Publication type:
- Article
Bioinformatic Analysis of Circular RNA-Associated ceRNA Network Associated with Hepatocellular Carcinoma.
- Published in:
- BioMed Research International, 2019, p. 1, doi. 10.1155/2019/8308694
- By:
- Publication type:
- Article
Antioxidants retard the ageing of mouse oocytes.
- Published in:
- Molecular Medicine Reports, 2018, v. 18, n. 2, p. 1981, doi. 10.3892/mmr.2018.9167
- By:
- Publication type:
- Article
Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 1, p. 137, doi. 10.3892/mmr.2016.5211
- By:
- Publication type:
- Article
Smith-Magenis syndrome in monozygotic twin fetuses presenting with discordant phenotypes and uteroplacental insufficiency.
- Published in:
- Molecular Medicine Reports, 2016, v. 13, n. 1, p. 347, doi. 10.3892/mmr.2015.4538
- By:
- Publication type:
- Article
When Cri du chat syndrome meets Edwards syndrome.
- Published in:
- Molecular Medicine Reports, 2015, v. 11, n. 3, p. 1933, doi. 10.3892/mmr.2014.2920
- By:
- Publication type:
- Article
Hiwi downregulation, mediated by shRNA, reduces the proliferation and migration of human hepatocellular carcinoma cells.
- Published in:
- Molecular Medicine Reports, 2015, v. 11, n. 2, p. 1455, doi. 10.3892/mmr.2014.2847
- By:
- Publication type:
- Article
Comprehensive Analysis of the Expression and Clinical Significance of THO Complex Members in Hepatocellular Carcinoma.
- Published in:
- International Journal of General Medicine, 2022, v. 15, p. 2695, doi. 10.2147/IJGM.S349925
- By:
- Publication type:
- Article
Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01809-7
- By:
- Publication type:
- Article
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01433-x
- By:
- Publication type:
- Article
Immunotherapy for Hepatocellular Carcinoma: Current Advances and Future Expectations.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Colchicine causes prenatal cell toxicity and increases tetraploid risk.
- Published in:
- BMC Pharmacology & Toxicology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s40360-019-0365-z
- By:
- Publication type:
- Article
The safety and effectiveness of genetically corrected iPSCs derived from β-thalassaemia patients in nonmyeloablative β-thalassaemic mice.
- Published in:
- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01765-w
- By:
- Publication type:
- Article
Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.964098
- By:
- Publication type:
- Article
Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.924573
- By:
- Publication type:
- Article
Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.829613
- By:
- Publication type:
- Article
Complex Chromosomal Rearrangement Causes Male Azoospermia: A Case Report and Literature Review.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.792539
- By:
- Publication type:
- Article
Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.802865
- By:
- Publication type:
- Article
The connection between innervation and metabolic rearrangements in pancreatic cancer through serine.
- Published in:
- Frontiers in Oncology, 2022, v. 12, p. 1, doi. 10.3389/fonc.2022.992927
- By:
- Publication type:
- Article