Prevalence of Smith–Lemli–Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts
- DOI
- 10.3390/genes17020164
- Published
- 2026-01-30
- Container
- Genes
- Publisher
- MDPI AG
- Open access
- unknown
Credibility signals
uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- supportingDOI registered: A matching record was returned by Crossref.
- supportingDOI resolves: A matching record was returned by Crossref.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- supportingMetadata completeness: All 6 scored descriptive metadata groups are present.
Cite this work
BibTeX
@article{allodium:10.3390/genes17020164,
title = {Prevalence of Smith–Lemli–Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts},
author = {Eszter Kovács and Zsuzsanna Szűcs and Miroslav Horňák and David Kubíček and Kateřina Weisová and Kateřina Veselá and Lenka Krůzová and Jan Geryk and Jan Diblík and Martina Bittóová and Milan Macek and István Balogh and Katalin Koczok},
year = {2026},
journal = {Genes},
doi = {10.3390/genes17020164},
url = {https://doi.org/10.3390/genes17020164}
}RIS
TY - JOUR TI - Prevalence of Smith–Lemli–Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts AU - Eszter Kovács AU - Zsuzsanna Szűcs AU - Miroslav Horňák AU - David Kubíček AU - Kateřina Weisová AU - Kateřina Veselá AU - Lenka Krůzová AU - Jan Geryk AU - Jan Diblík AU - Martina Bittóová AU - Milan Macek AU - István Balogh AU - Katalin Koczok PY - 2026 JO - Genes DO - 10.3390/genes17020164 UR - https://doi.org/10.3390/genes17020164 ER -
APA
Kovács, E., Szűcs, Z., Horňák, M., Kubíček, D., Weisová, K., Veselá, K., Krůzová, L., Geryk, J., Diblík, J., Bittóová, M., Macek, M., Balogh, I., & Koczok, K. (2026). Prevalence of Smith–Lemli–Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts. Genes. https://doi.org/10.3390/genes17020164
Source records
- crossref · retrieved 2026-09-25T23:16:00.740Z