Found: 21
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Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
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- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1132, doi. 10.3390/jpm12071132
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- Article
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
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- Journal of Personalized Medicine, 2020, v. 10, n. 3, p. 140, doi. 10.3390/jpm10030140
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- Article
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.709419
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- Article
Do Extracellular Vesicles Derived from Mesenchymal Stem Cells Contain Functional Mitochondria?
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- International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7408, doi. 10.3390/ijms23137408
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- Article
Gut Microbiota as a Source of Uremic Toxins.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 483, doi. 10.3390/ijms23010483
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- Article
The Double Mutation DSG2 -p.S363X and TBX20 -p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6775, doi. 10.3390/ijms22136775
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- Article
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3786, doi. 10.3390/ijms22073786
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- Article
BaRDIC: robust peak calling for RNA--DNA interaction data.
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- NAR Genomics & Bioinformatics, 2024, v. 6, n. 2, p. 1, doi. 10.1093/nargab/lqae054
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- Article
Cystic Fibrosis Polymorphic Variants in a Russian Population.
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- Pharmacogenomics & Personalized Medicine, 2020, v. 13, p. 679, doi. 10.2147/PGPM.S278806
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- Article
Mesenchymal stromal cell-derived extracellular vesicles afford neuroprotection by modulating PI3K/AKT pathway and calcium oscillations.
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- International Journal of Biological Sciences, 2022, v. 18, n. 14, p. 5345, doi. 10.7150/ijbs.73747
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- Article
Expression of SARS-CoV-2 entry factors in lung epithelial stem cells and its potential implications for COVID-19.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-74598-5
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- Article
SARS‐CoV‐2 cellular tropism and direct multiorgan failure in COVID‐19 patients: Bioinformatic predictions, experimental observations, and open questions.
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- Cell Biology International, 2023, v. 47, n. 2, p. 308, doi. 10.1002/cbin.11928
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- Article
Ectopic expression of HIV-1 Tat modifies gene expression in cultured B cells: implications for the development of B-cell lymphomas in HIV-1-infected patients.
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- PeerJ, 2022, p. 1, doi. 10.7717/peerj.13986
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- Article
OrthoQuantum: visualizing evolutionary repertoire of eukaryotic proteins.
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- Nucleic Acids Research, 2022, v. 50, n. W1, p. W534, doi. 10.1093/nar/gkac385
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- Article
Back Cover, Volume 40, Issue 6.
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- Human Mutation, 2019, v. 40, n. 6, p. ii, doi. 10.1002/humu.23796
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- Article
Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect.
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- Human Mutation, 2019, v. 40, n. 6, p. 734, doi. 10.1002/humu.23747
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- Article
A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
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- Genes, 2022, v. 13, n. 2, p. 309, doi. 10.3390/genes13020309
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- Article
Differential Analysis of A-to-I mRNA Edited Sites in Parkinson's Disease.
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- Genes, 2022, v. 13, n. 1, p. 14, doi. 10.3390/genes13010014
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The LDLR , APOB , and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
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- Genes, 2021, v. 12, n. 1, p. 66, doi. 10.3390/genes12010066
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- Article
A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7556, doi. 10.3390/ijms25147556
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Applicability of Diagnostic Criteria and High Prevalence of Familial Dysbetalipoproteinemia in Russia: A Pilot Study.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13159, doi. 10.3390/ijms241713159
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- Article