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Integration of single-cell and bulk RNA sequencing data reveals that CYTOR is a potential prognostic and immunotherapeutic response marker for skin cutaneous melanoma.
- Published in:
- Journal of Cancer, 2024, v. 15, n. 12, p. 3890, doi. 10.7150/jca.94823
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- Publication type:
- Article
A novel variant in NSUN2 causes intellectual disability in a Chinese family.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01883-x
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- Publication type:
- Article
Upregulation of CALD1 predicted a poor prognosis for platinum-treated ovarian cancer and revealed it as a potential therapeutic resistance target.
- Published in:
- BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-024-10056-0
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- Publication type:
- Article
Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1340458
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- Publication type:
- Article
Phenotypic and genotypic characterization of NPRL3‐related epilepsy: Two case reports and literature review.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 1, p. 33, doi. 10.1002/epi4.12856
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- Publication type:
- Article
Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2408
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- Publication type:
- Article
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01805-x
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- Publication type:
- Article
A genetic variant in the MAST1 gene is associated with mega‐corpus‐callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2358
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- Publication type:
- Article
Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 9, p. 1, doi. 10.1002/mgg3.2215
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- Publication type:
- Article
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01567-y
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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
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
- Published in:
- 2023
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- Publication type:
- Case Study
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review.
- Published in:
- Clinical Laboratory, 2023, v. 69, n. 3, p. 625, doi. 10.7754/Clin.Lab.2022.220610
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- Publication type:
- Article
De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 6, p. 1293, doi. 10.1007/s12031-022-02010-0
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- Publication type:
- Article
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 568, doi. 10.1002/humu.24347
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- Publication type:
- Article
Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
- Published in:
- BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01217-9
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- Publication type:
- Article
De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.811092
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- Publication type:
- Article
De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.811092
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- Publication type:
- Article
Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.783841
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- Publication type:
- Article
Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.732621
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- Publication type:
- Article
Clinical application of whole-exome sequencing: A retrospective, single-center study.
- Published in:
- Experimental & Therapeutic Medicine, 2021, v. 22, n. 1, p. N.PAG, doi. 10.3892/etm.2021.10185
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- Publication type:
- Article
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1683
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- Publication type:
- Article
Lactoferrin is required for early B cell development in C57BL/6 mice.
- Published in:
- 2021
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- Publication type:
- Letter
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1624
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- Publication type:
- Article
Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
- Published in:
- BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00842-6
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- Publication type:
- Article
Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1515
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- Publication type:
- Article
Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1303
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- Publication type:
- Article
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00592
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- Publication type:
- Article
Eph receptors: the bridge linking host and virus.
- Published in:
- Cellular & Molecular Life Sciences, 2020, v. 77, n. 12, p. 2355, doi. 10.1007/s00018-019-03409-6
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- Publication type:
- Article
Identification of Differentially Expressed lncRNAs in a CpG ODN-Activated Macrophage.
- Published in:
- 2020
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- Publication type:
- journal article
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation-dependent probe amplification in an infant with congenital generalized lipodystrophy.
- Published in:
- Molecular Medicine Reports, 2020, v. 21, n. 6, p. 2296, doi. 10.3892/mmr.2020.11036
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- Publication type:
- Article
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01039-5
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- Publication type:
- Article
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1212
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- Publication type:
- Article
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0462-0
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- Publication type:
- Article
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0842-7
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- Publication type:
- Article
Two novel pathogenic variants of L1CAM gene in two fetuses with isolated X-linked hydrocephaly: A case report.
- Published in:
- Molecular Medicine Reports, 2018, v. 18, n. 6, p. 5760, doi. 10.3892/mmr.2018.9583
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- Publication type:
- Article
A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.
- Published in:
- Molecular Medicine Reports, 2018, v. 17, n. 3, p. 4433, doi. 10.3892/mmr.2018.8436
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- Publication type:
- Article
Suppression Colitis and Colitis-Associated Colon Cancer by Anti-S100a9 Antibody in Mice.
- Published in:
- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01774
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- Publication type:
- Article
Epstein-Barr Virus miR-BART6-3p Inhibits the RIG-I Pathway.
- Published in:
- Journal of Innate Immunity, 2017, v. 9, n. 6, p. 574, doi. 10.1159/000479749
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- Publication type:
- Article
Mosaic UPD(7q)mat in a patient with silver Russell syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0337-1
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- Publication type:
- Article
MicroRNAs Provide Feedback Regulation of Epithelial-Mesenchymal Transition Induced by Growth Factors.
- Published in:
- Journal of Cellular Physiology, 2016, v. 231, n. 1, p. 120, doi. 10.1002/jcp.25060
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- Publication type:
- Article
Inflammation-induced S100A8 activates Id3 and promotes colorectal tumorigenesis.
- Published in:
- International Journal of Cancer, 2015, v. 137, n. 12, p. 2803, doi. 10.1002/ijc.29671
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- Publication type:
- Article
Lactoferrin Deficiency Promotes Colitis-Associated Colorectal Dysplasia in Mice.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0103298
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- Publication type:
- Article