Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary-Reference-Cited by-同舟云学术

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Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary

Published:2012 Issue:5 Volume:3 Page:215-222
ISSN:1661-8777
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Balogh I.,Koczok K.,Szabó G.P.,Török O.,Hadzsiev K.,Csábi G.,Balogh L.,Dzsudzsák E.,Ajzner É.,Szabó L.,Csákváry V.,Oláh A.V.

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the <i>DHCR7</i> Gene in a 73-Year-Old Woman: Report of the Oldest Patient;Molecular Syndromology;2024

2. Dose–Response Effects of 7-Dehydrocholesterol Reductase Inhibitors on Sterol Profiles and Vesicular Stomatitis Virus Replication;ACS Pharmacology & Translational Science;2022-10-25

3. Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients;Biomolecules;2021-08-17

4. Sharing genetic variants with the NGS pipeline is essential for effective genomic data sharing and reproducibility in health information exchange;Scientific Reports;2021-01-26

5. Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report;Italian Journal of Pediatrics;2020-10-28

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