Found: 35
Select item for more details and to access through your institution.
Phenotypic and Genotypic Features of the FAN1 Mutation-Related Disease in a Large Hungarian Family.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5907, doi. 10.3390/ijms25115907
- By:
- Publication type:
- Article
The Apical Endocytic-Lysosomal Apparatus in CLCN5 Mutations with Phenotypic-Genotypic Correlations in Three Cases.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 2, p. 966, doi. 10.3390/ijms25020966
- By:
- Publication type:
- Article
Phenotype–Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17489, doi. 10.3390/ijms242417489
- By:
- Publication type:
- Article
Ritka tubulopathia: Dent-betegség a focalis segmentalis glomerularis sclerosis hátterében.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2023, v. 164, n. 20, p. 788, doi. 10.1556/650.2023.32787
- By:
- Publication type:
- Article
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
correctKin: an optimized method to infer relatedness up to the 4th degree from low-coverage ancient human genomes.
- Published in:
- Genome Biology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13059-023-02882-4
- By:
- Publication type:
- Article
Adaptive Savitzky–Golay Filters for Analysis of Copy Number Variation Peaks from Whole-Exome Sequencing Data.
- Published in:
- Information (2078-2489), 2023, v. 14, n. 2, p. 128, doi. 10.3390/info14020128
- By:
- Publication type:
- Article
Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 2617, doi. 10.3390/ijms24032617
- By:
- Publication type:
- Article
Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2023, v. 76, n. 1/2, p. 63, doi. 10.18071/isz.76.0063
- By:
- Publication type:
- Article
Maternal Lineages of Gepids from Transylvania.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 563, doi. 10.3390/genes13040563
- By:
- Publication type:
- Article
ATYPICAL PRESENTATION OF LATE-ONSET SANDHOFF DISEASE: A CASE REPORT.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2021, v. 74, n. 11/12, p. 425, doi. 10.18071/isz.74.0425
- By:
- Publication type:
- Article
Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2131, doi. 10.1007/s11011-021-00790-9
- By:
- Publication type:
- Article
Time course profiling of host cell response to herpesvirus infection using nanopore and synthetic long-read transcriptome sequencing.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-93142-7
- By:
- Publication type:
- Article
Time-course transcriptome analysis of host cell response to poxvirus infection using a dual long-read sequencing approach.
- Published in:
- BMC Research Notes, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13104-021-05657-x
- By:
- Publication type:
- Article
Maternal Lineages from 10–11th Century Commoner Cemeteries of the Carpathian Basin.
- Published in:
- Genes, 2021, v. 12, n. 3, p. 460, doi. 10.3390/genes12030460
- By:
- Publication type:
- Article
Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family.
- Published in:
- 2021
- By:
- Publication type:
- journal article
PAX2 Mutation-Related Oligomeganephronia in a Young Adult Patient.
- Published in:
- Case Reports in Nephrology & Dialysis, 2020, v. 10, n. 3, p. 163, doi. 10.1159/000510841
- By:
- Publication type:
- Article
Transcriptome Based Profiling of the Immune Cell Gene Signature in Rat Experimental Colitis and Human IBD Tissue Samples.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 7, p. 974, doi. 10.3390/biom10070974
- By:
- Publication type:
- Article
Cerebrospinal Fluid Neurofilament Light Chain Is Associated with Kynurenine Pathway Metabolite Changes in Multiple Sclerosis.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 8, p. 2665, doi. 10.3390/ijms21082665
- By:
- Publication type:
- Article
A magasvérnyomás-betegség prevalenciája túlsúlyos és elhízott magyar gyermek- és serdülőkorú populációban.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2020, v. 161, n. 4, p. 151, doi. 10.1556/650.2020.31543
- By:
- Publication type:
- Article
Reference values for resting and post exercise hemodynamic parameters in a 6–18 year old population.
- Published in:
- Scientific Data, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41597-020-0368-z
- By:
- Publication type:
- Article
Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-53105-5
- By:
- Publication type:
- Article
CEREBRAL CAVERNOUS MALFORMATION TYPE 1 WITH RETINAL BLOOD VESSEL TORTUOSITY AND KRIT1 GENE MUTATION.
- Published in:
- Clinical Neuroscience / Ideggyógyászati Szemle, 2019, v. 72, n. 7/8, p. 273, doi. 10.18071/isz.72.0273
- By:
- Publication type:
- Article
AIRE mutáció ritka gastrointestinalis tüneteinek bemutatása egy eset kapcsán.
- Published in:
- Gyermekgyógyászat, 2019, v. 70, n. 4, p. 246
- By:
- Publication type:
- Article
Correction: Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis.
- Published in:
- BMC Genomics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12864-018-5168-x
- By:
- Publication type:
- Article
Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians.
- Published in:
- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205920
- By:
- Publication type:
- Article
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 10, p. 1713, doi. 10.1007/s00467-018-3992-5
- By:
- Publication type:
- Article
Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 3, p. 439, doi. 10.1007/s00467-017-3814-1
- By:
- Publication type:
- Article
Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0174886
- By:
- Publication type:
- Article
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0149241
- By:
- Publication type:
- Article
Increased heme oxygenase-1 expression in premature infants with respiratory distress syndrome.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Heme oxygenase-1 expression in premature and mature neonates during the first week of life.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Heme oxygenase 1 expression in young uremic patients on hemodialysis.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 4, p. 426
- By:
- Publication type:
- Article