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The dominant findings of a recessive man: from Mendel's kid pea to kidney.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 7, p. 2049, doi. 10.1007/s00467-023-06238-9
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- 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
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- Publication type:
- Article
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.
- Published in:
- 2013
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- Publication type:
- Report
Cardiovascular risk assessment in children with chronic kidney disease.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 6, p. 875, doi. 10.1007/s00467-012-2325-3
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- Publication type:
- Article
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 5, p. 751, doi. 10.1007/s00467-012-2379-2
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- Publication type:
- Article
Congenitalis aniridia - szemészeti és szisztémás spektrum betegség.
- Published in:
- Gyermekgyógyászat, 2024, v. 75, n. 2, p. 108
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- Publication type:
- Article
Transzkriptumok jelentősége a humángenetikában.
- Published in:
- Gyermekgyógyászat, 2020, v. 71, n. 5, p. 278
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- Publication type:
- Article
Egy fonálféreg az orvoslás szolgálatában: Caenorhabditis elegans.
- Published in:
- Gyermekgyógyászat, 2019, v. 70, n. 4, p. 222
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- Publication type:
- Article
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 6, p. 809, doi. 10.1515/cclm-2016-0819
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- Publication type:
- Article
Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance.
- Published in:
- Diabetes, 2014, v. 63, n. 6, p. 1881, doi. 10.2337/db13-0967
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- Publication type:
- Article
The HSP co-inducer BGP-15 can prevent the metabolic side effects of the atypical antipsychotics.
- Published in:
- Cell Stress & Chaperones, 2012, v. 17, n. 4, p. 517, doi. 10.1007/s12192-012-0327-5
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- Publication type:
- Article
Zebrafish Models of Rare Hereditary Pediatric Diseases.
- Published in:
- Diseases, 2018, v. 6, n. 2, p. 43, doi. 10.3390/diseases6020043
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- Publication type:
- Article
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 3, p. 299, doi. 10.1038/ng.2898
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- Publication type:
- Article
Signs of autonomic neuropathy in childhood uremia.
- Published in:
- Pediatric Nephrology, 2001, v. 16, n. 1, p. 25, doi. 10.1007/s004670000484
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- Publication type:
- Article
EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 1, p. 80, doi. 10.1111/ahg.12337
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- Publication type:
- Article
Improvement of Insulin Sensitivity by a Novel Drug Candidate, BGP-15, in Different Animal Studies.
- Published in:
- Metabolic Syndrome & Related Disorders, 2014, v. 12, n. 2, p. 125, doi. 10.1089/met.2013.0098
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- Publication type:
- Article
Primer hyperoxaluria. Tények és perspektívák.
- Published in:
- Hypertonia és Nephrologia, 2022, v. 26, n. 6, p. 276, doi. 10.33668/hn.26.030
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- Publication type:
- Article
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
- Published in:
- Kidney International, 2009, v. 75, n. 8, p. 839, doi. 10.1038/ki.2008.662
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- Publication type:
- Article
9p triszómia és a klinikai sokszínűség: egy váratlan megjelenésű eset ismertetése.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2018, v. 159, n. 47, p. 1994, doi. 10.1556/650.2018.31223
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- Publication type:
- Article
Cardiovascular risk assessment in children following kidney transplantation.
- Published in:
- Pediatric Transplantation, 2012, v. 16, n. 6, p. 564, doi. 10.1111/j.1399-3046.2012.01730.x
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- Publication type:
- Article
The sub‐basal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal microscopy.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16556
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- Publication type:
- Article
Genetic background of congenital aniridia.
- Published in:
- 2024
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- Publication type:
- Abstract
A sóláz.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2024, v. 165, n. 29, p. 1107, doi. 10.1556/650.2024.33086
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- Publication type:
- Article
Veleszületett aniridiás betegek látáskárosodással kapcsolatos tapasztalatai Magyarországon.: Az ANIRIDIA-NET felmérése.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2023, v. 164, n. 34, p. 1342, doi. 10.1556/650.2023.32845
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- Publication type:
- Article
Az aniridiához társult keratopathia stádiumbeosztása.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2023, v. 164, n. 27, p. 1063, doi. 10.1556/650.2023.32803
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- Publication type:
- Article
Congenitalis aniridia – egy spektrumbetegség magyarországi adatai.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2023, v. 164, n. 4, p. 148, doi. 10.1556/650.2023.32697
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- Publication type:
- Article
Arthrogryposis–renalis diszfunkció–cholestasis szindróma.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2022, v. 163, n. 2, p. 74, doi. 10.1556/650.2022.32312
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- Publication type:
- Article
A gyermekkori koronavírus-fertőzést követő sokszervi gyulladás diagnosztikája és kezelése.
- Published in:
- Hungarian Medical Journal / Orvosi Hetilap, 2021, v. 162, n. 17, p. 652, doi. 10.1556/650.2021.32231
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- Publication type:
- Article
Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs.
- Published in:
- BMC Molecular Biology, 2017, v. 18, p. 1, doi. 10.1186/s12867-017-0089-9
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- Publication type:
- Article
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach.
- Published in:
- Human Mutation, 2021, v. 42, n. 11, p. 1473, doi. 10.1002/humu.24273
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- Publication type:
- Article
The mutation‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1854, doi. 10.1002/humu.23660
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- Publication type:
- Article
Synergetic Insulin Sensitizing Effect of Rimonabant and BGP-15 in Zucker-Obes Rats.
- Published in:
- Pathology & Oncology Research, 2013, v. 19, n. 3, p. 571, doi. 10.1007/s12253-013-9620-6
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- Publication type:
- Article
A Novel Insulin Sensitizer Drug Candidate-BGP-15-Can Prevent Metabolic Side Effects of Atypical Antipsychotics.
- Published in:
- Pathology & Oncology Research, 2012, v. 18, n. 4, p. 1071, doi. 10.1007/s12253-012-9546-4
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- Publication type:
- Article
Evaluation of the tyrosine kinase domain of the Met Proto-oncogene in sporadic ovarian carcinomas.
- Published in:
- Pathology & Oncology Research, 1999, v. 5, n. 3, p. 187, doi. 10.1053/paor.1999.0219
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- Publication type:
- Article
Analysis of p53 mutation and cyclin d1 expression in breast tumors.
- Published in:
- Pathology & Oncology Research, 1999, v. 5, n. 2, p. 90, doi. 10.1053/paor.1999.0201
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- Publication type:
- Article