Found: 39
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GBF1 deficiency causes cataracts in human and mouse.
- Published in:
- Human Genetics, 2024, v. 143, n. 11, p. 1281, doi. 10.1007/s00439-024-02697-8
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- Publication type:
- Article
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2605, doi. 10.1007/s10072-023-06748-2
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- Publication type:
- Article
Coexistence of tet(A) and bla<sub>KPC-2</sub> in the ST11 hypervirulent tigecycline- and carbapenem-resistant Klebsiella pneumoniae isolated from a blood sample.
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- European Journal of Clinical Microbiology & Infectious Diseases, 2023, v. 42, n. 1, p. 23, doi. 10.1007/s10096-022-04512-6
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- Publication type:
- Article
Chinese College Students' Stress and Anxiety Levels Under COVID-19.
- Published in:
- Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.615390
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- Article
A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 31, doi. 10.1002/ajmg.a.62480
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- Publication type:
- Article
Comprehensive Analysis of lncRNAs Associated with the Pathogenesis and Prognosis of Gastric Cancer.
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- DNA & Cell Biology, 2020, v. 39, n. 2, p. 299, doi. 10.1089/dna.2019.5161
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- Publication type:
- Article
A novel homozygous mutation in ACTL7A leads to male infertility.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 2, p. 353, doi. 10.1007/s00438-022-01985-0
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- Publication type:
- Article
Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation.
- Published in:
- Neurodegenerative Diseases, 2022, v. 21, n. 5/6, p. 126, doi. 10.1159/000524784
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- Publication type:
- Article
NovelCACNA1Smutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
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- Journal of Molecular Medicine, 2005, v. 83, n. 3, p. 203, doi. 10.1007/s00109-005-0638-4
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- Publication type:
- Article
Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain.
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- Human Genetics, 2020, v. 139, n. 4, p. 545, doi. 10.1007/s00439-020-02123-9
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- Publication type:
- Article
Heat Transport Phenomena for the Darcy–Forchheimer Flow of Casson Fluid over Stretching Sheets with Electro-Osmosis Forces and Newtonian Heating.
- Published in:
- Mathematics (2227-7390), 2021, v. 9, n. 19, p. 2525, doi. 10.3390/math9192525
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- Publication type:
- Article
Tsga10 is essential for arrangement of mitochondrial sheath and male fertility in mice.
- Published in:
- Andrology, 2021, v. 9, n. 1, p. 368, doi. 10.1111/andr.12889
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- Publication type:
- Article
Potential Genes Associated with COVID-19 and Comorbidity.
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- International Journal of Medical Sciences, 2022, v. 19, n. 2, p. 402, doi. 10.7150/ijms.67815
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- Publication type:
- Article
Effects of biochar on sodium ion accumulation, yield and quality of rice in saline-sodic soil of the west of Songnen plain, northeast China.
- Published in:
- Plant, Soil & Environment, 2018, v. 64, n. 12, p. 612, doi. 10.17221/359/2018-PSE
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- Publication type:
- Article
Inhibition of gastric cancer cell apoptosis by long noncoding RNA TRPM2‐AS via mitogen‐activated protein kinase and activators of transduction‐3.
- Published in:
- Journal of Gastroenterology & Hepatology, 2021, v. 36, n. 1, p. 186, doi. 10.1111/jgh.15108
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- Publication type:
- Article
Identification of functional lncRNAs in gastric cancer by integrative analysis of GEO and TCGA data.
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- Journal of Cellular Biochemistry, 2019, v. 120, n. 10, p. 17898, doi. 10.1002/jcb.29058
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- Publication type:
- Article
SLCO4C1 promoter methylation is a potential biomarker for prognosis associated with biochemical recurrence-free survival after radical prostatectomy.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0693-2
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- Publication type:
- Article
Bacterial metabolites directly modulate farnesoid X receptor activity.
- Published in:
- Nutrition & Metabolism, 2015, v. 12, p. 1, doi. 10.1186/s12986-015-0045-y
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- Publication type:
- Article
Novel mutations in ZP2 and ZP3 cause female infertility in three patients.
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- Journal of Assisted Reproduction & Genetics, 2022, v. 39, n. 5, p. 1205, doi. 10.1007/s10815-022-02466-4
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- Publication type:
- Article
A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation.
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- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 1, p. 251, doi. 10.1007/s10815-020-01995-0
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- Publication type:
- Article
Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 11, p. 2853, doi. 10.1007/s10815-020-01926-z
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- Publication type:
- Article
Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 4, p. 841, doi. 10.1007/s10815-020-01698-6
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- Publication type:
- Article
Novel compound heterozygous mutations in WEE2 causes female infertility and fertilization failure.
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- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 9, p. 1957, doi. 10.1007/s10815-019-01553-3
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- Publication type:
- Article
A novel UBE2A mutation in a Chinese family with X‐linked intellectual disability.
- Published in:
- Journal of Gene Medicine, 2020, v. 22, n. 8, p. 1, doi. 10.1002/jgm.3191
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- Publication type:
- Article
Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
- Published in:
- Nature, 2015, v. 519, n. 7543, p. 378, doi. 10.1038/nature14271
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- Publication type:
- Article
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
- Published in:
- Nature, 2015, v. 517, n. 7532, p. 89, doi. 10.1038/nature13801
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- Publication type:
- Article
The value of artificial intelligence in the diagnosis of lung cancer: A systematic review and meta-analysis.
- Published in:
- PLoS ONE, 2023, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0273445
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- Publication type:
- Article
Integrative analysis of the gastric cancer long non-coding RNA-associated competing endogenous RNA network.
- Published in:
- Oncology Letters, 2021, v. 21, n. 6, p. N.PAG, doi. 10.3892/ol.2021.12717
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- Publication type:
- Article
FOXS1 is regulated by GLI1 and miR-125a-5p and promotes cell proliferation and EMT in gastric cancer.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41717-w
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- Article
Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation.
- Published in:
- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1141488
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- Publication type:
- Article
Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease.
- Published in:
- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0215648
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- Publication type:
- Article
A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome.
- Published in:
- Reproductive Sciences, 2022, v. 29, n. 12, p. 3516, doi. 10.1007/s43032-022-01024-8
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- Publication type:
- Article
Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility.
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- Reproductive Sciences, 2022, v. 29, n. 10, p. 3047, doi. 10.1007/s43032-022-00958-3
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- Publication type:
- Article
Novel Compound Heterozygous Mutation in FSIP2 Causes Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) and Male Infertility.
- Published in:
- Reproductive Sciences, 2022, v. 29, n. 9, p. 2697, doi. 10.1007/s43032-022-00965-4
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- Publication type:
- Article
TUBB8 Mutations Cause Female Infertility with Large Polar Body Oocyte and Fertilization Failure.
- Published in:
- Reproductive Sciences, 2021, v. 28, n. 10, p. 2942, doi. 10.1007/s43032-021-00633-z
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- Publication type:
- Article
LINC01272 Promotes Migration and Invasion of Gastric Cancer Cells via EMT.
- Published in:
- OncoTargets & Therapy, 2020, v. 13, p. 3401, doi. 10.2147/OTT.S242073
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- Publication type:
- Article
Next-generation sequencing and RT-PCR to identify a 32-day SARS-CoV-2 carrier.
- Published in:
- 2021
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- Publication type:
- Letter
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
- Published in:
- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-87
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- Publication type:
- Article
A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family.
- Published in:
- BMC Medical Genetics, 2007, v. 8, p. 1, doi. 10.1186/1471-2350-8-52
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- Publication type:
- Article