Found: 21
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Resolving misalignment interference for NGS-based clinical diagnostics.
- Published in:
- Human Genetics, 2021, v. 140, n. 3, p. 477, doi. 10.1007/s00439-020-02216-5
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- Article
Phenotypic Switching of Naïve T Cells to Immune-Suppressive Treg-Like Cells by Mutant KRAS.
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- Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1726, doi. 10.3390/jcm8101726
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- Article
A high-throughput next-generation sequencing-based method for detecting the mutational fingerprint of carcinogens.
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- Nucleic Acids Research, 2012, v. 40, n. 15, p. e116, doi. 10.1093/nar/gks610
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- Article
First clinical report of an infant with microcephaly and CASC5 mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2215, doi. 10.1002/ajmg.a.37726
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- Article
MicroRNA profiling of clear cell renal cell carcinoma by whole-genome small RNA deep sequencing of paired frozen and formalin-fixed, paraffin-embedded tissue specimens.
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- Journal of Pathology, 2010, v. 222, n. 1, p. 41, doi. 10.1002/path.2736
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- Article
Identification of a 4-microRNA Signature for Clear Cell Renal Cell Carcinoma Metastasis and Prognosis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0035661
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- Article
Genome-Wide Profiling Identified a Set of miRNAs that Are Differentially Expressed in Glioblastoma Stem Cells and Normal Neural Stem Cells.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0036248
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- Article
Transcriptome-Wide Survey of Mouse CNS-Derived Cells Reveals Monoallelic Expression within Novel Gene Families.
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- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031751
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- Article
Patients with chronic myeloid leukemia and coronavirus disease 2019 in the Omicron era.
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- Annals of Hematology, 2023, v. 102, n. 10, p. 2707, doi. 10.1007/s00277-023-05413-0
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- Article
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis.
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- BMC Neuroscience, 2004, v. 5, p. 57, doi. 10.1186/1471-2202-5-57
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- Article
Modelling of Fracture Toughness of X80 Pipeline Steels in DTB Transition Region Involving the Effect of Temperature and Crack Growth.
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- Metals (2075-4701), 2020, v. 10, n. 1, p. 28, doi. 10.3390/met10010028
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- Article
An Excess of G over C Nucleotides in Mutagenesis of Human Genetic Diseases.
- Published in:
- Molecular Biotechnology, 2011, v. 48, n. 1, p. 1, doi. 10.1007/s12033-010-9341-y
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- Article
Attention-Oriented CNN Method for Type 2 Diabetes Prediction.
- Published in:
- Applied Sciences (2076-3417), 2024, v. 14, n. 10, p. 3989, doi. 10.3390/app14103989
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- Article
Numerical Investigation of Strength Mismatch Effect on Ductile Crack Growth Resistance in Welding Pipe.
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- Applied Sciences (2076-3417), 2020, v. 10, n. 4, p. 1374, doi. 10.3390/app10041374
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- Article
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 353, doi. 10.1002/jimd.12045
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- Article
Empirical Analysis of Relieving High-Speed Rail Freight Congestion in China.
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- Sustainability (2071-1050), 2020, v. 12, n. 23, p. 9918, doi. 10.3390/su12239918
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- Article
Piwi-Interacting RNAs (piRNAs) Are Dysregulated in Renal Cell Carcinoma and Associated with Tumor Metastasis and Cancer-Specific Survival.
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- Molecular Medicine, 2015, v. 21, n. 1, p. 381, doi. 10.2119/molmed.2014.00203
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- Article
A Law of Mutation: Power Decay of Small Insertions and Small Deletions Associated with Human Diseases.
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- Applied Biochemistry & Biotechnology, 2010, v. 162, n. 2, p. 321, doi. 10.1007/s12010-009-8793-7
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- Article
Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.
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- Journal of Molecular Medicine, 2022, v. 100, n. 2, p. 269, doi. 10.1007/s00109-021-02102-1
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- Article
A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.
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- Genes, 2020, v. 11, n. 8, p. 903, doi. 10.3390/genes11080903
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- Article
A Young Woman With Recurrent Gestational Hypercalcemia and Acute Pancreatitis Caused by CYP24A1 Deficiency.
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- Journal of Bone & Mineral Research, 2016, v. 31, n. 10, p. 1841, doi. 10.1002/jbmr.2859
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- Article