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Molecular diagnostics identifies risks for graft dysfunction despite borderline histologic changes.
- Published in:
- 2015
- By:
- Publication type:
- journal article
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007671
- By:
- Publication type:
- Article
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 2, p. 519, doi. 10.1172/JCI59526
- By:
- Publication type:
- Article
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 937, doi. 10.3390/jcm9040937
- By:
- Publication type:
- Article
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1238
- By:
- Publication type:
- Article
Přínos masivního paralelního sekvenování pro diagnostiku dědičných forem nádorů ovaria v České republice.
- Published in:
- Journal of the Czech & Slovak Societies for Oncology / Klinická Onkologie, 2019, v. 32, p. 72
- By:
- Publication type:
- Article
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
- Published in:
- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0288907
- By:
- Publication type:
- Article
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2119, doi. 10.1002/ajmg.a.61302
- By:
- Publication type:
- Article
LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2430, doi. 10.1002/ajmg.a.40430
- By:
- Publication type:
- Article
Etické zásady pro používání a sdílení genomických dat z výzkumu.
- Published in:
- Journal of Czech Physicians / Časopis Lékařů Českých, 2022, v. 161, n. 7/8, p. 271
- By:
- Publication type:
- Article
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.
- Published in:
- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2019, v. 163, n. 4, p. 309, doi. 10.5507/bp.2018.054
- By:
- Publication type:
- Article
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
- Published in:
- Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246
- By:
- Publication type:
- Article
Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure.
- Published in:
- Cardiovascular Diabetology, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12933-024-02298-9
- By:
- Publication type:
- Article
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0425-4
- By:
- Publication type:
- Article
Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
- Published in:
- Genes, Brain & Behavior, 2024, v. 23, n. 1, p. 1, doi. 10.1111/gbb.12882
- By:
- Publication type:
- Article
Rare copy number variation in extremely impulsively violent males.
- Published in:
- Genes, Brain & Behavior, 2019, v. 18, n. 6, p. N.PAG, doi. 10.1111/gbb.12536
- By:
- Publication type:
- Article
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-66324-2
- By:
- Publication type:
- Article
Molecular Fingerprints of Borderline Changes in Kidney Allografts Are Influenced by Donor Category.
- Published in:
- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00423
- By:
- Publication type:
- Article
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.
- Published in:
- Cancers, 2023, v. 15, n. 1, p. 201, doi. 10.3390/cancers15010201
- By:
- Publication type:
- Article
LncRNA Profiling Reveals That the Deregulation of H19, WT1-AS, TCL6, and LEF1-AS1 Is Associated with Higher-Risk Myelodysplastic Syndrome.
- Published in:
- Cancers, 2020, v. 12, n. 10, p. 2726, doi. 10.3390/cancers12102726
- By:
- Publication type:
- Article
Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1581, doi. 10.1038/ejhg.2015.28
- By:
- Publication type:
- Article
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 431, doi. 10.1038/ejhg.2013.148
- By:
- Publication type:
- Article
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02689-3
- By:
- Publication type:
- Article
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F<sub>1</sub>F<sub>o</sub> ATP synthase deficiency.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-38
- By:
- Publication type:
- Article
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.
- Published in:
- Molecular Biology Reports, 2017, v. 44, n. 6, p. 435, doi. 10.1007/s11033-017-4121-4
- By:
- Publication type:
- Article
Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.
- Published in:
- 2017
- By:
- Publication type:
- Erratum
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome.
- Published in:
- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06819-w
- By:
- Publication type:
- Article
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1035, doi. 10.3233/JND-230236
- By:
- Publication type:
- Article
Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 994, doi. 10.1002/acn3.51332
- By:
- Publication type:
- Article
Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 694, doi. 10.1002/jimd.12237
- By:
- Publication type:
- Article
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder.
- Published in:
- Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad295
- By:
- Publication type:
- Article
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.865
- By:
- Publication type:
- Article
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4062, doi. 10.1093/hmg/ddw245
- By:
- Publication type:
- Article
Sideroblastic anemia associated with multisystem mitochondrial disorders.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
- Published in:
- Journal of Dermatology, 2020, v. 47, n. 6, p. 663, doi. 10.1111/1346-8138.15317
- By:
- Publication type:
- Article
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
- Published in:
- Biomedicines, 2020, v. 8, n. 10, p. 404, doi. 10.3390/biomedicines8100404
- By:
- Publication type:
- Article
Early isolated V-lesion may not truly represent rejection of the kidney allograft.
- Published in:
- Clinical Science, 2018, v. 132, n. 20, p. 2269, doi. 10.1042/CS20180745
- By:
- Publication type:
- Article
GPD1 Deficiency – Underdiagnosed Cause of Liver Disease.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.
- Published in:
- Human Mutation, 2024, p. 1, doi. 10.1155/2024/4450082
- By:
- Publication type:
- Article
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 677, doi. 10.3390/genes12050677
- By:
- Publication type:
- Article
POLRMT mutations impair mitochondrial transcription causing neurological disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21279-0
- By:
- Publication type:
- Article
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.
- Published in:
- Journal of Ophthalmology, 2020, p. 1, doi. 10.1155/2020/6807809
- By:
- Publication type:
- Article
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
- Published in:
- PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195761
- By:
- Publication type:
- Article