Balogh I - Search Results

1

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.

Szabó TM, Balogh I, Ujfalusi A, Szűcs Z, Madar L, Koczok K, Bessenyei B, Csürke I, Szakszon K. Szabó TM, et al. Among authors: balogh i. Genes (Basel). 2022 Dec 15;13(12):2367. doi: 10.3390/genes13122367. Genes (Basel). 2022. PMID: 36553633 Free PMC article.

2

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.

Ivady G, Madar L, Nagy B, Gonczi F, Ajzner E, Dzsudzsak E, Dvořáková L, Gombos E, Kappelmayer J, Macek M Jr, Balogh I. Ivady G, et al. Among authors: balogh i. J Cyst Fibros. 2011 May;10(3):217-20. doi: 10.1016/j.jcf.2010.12.009. Epub 2011 Feb 4. J Cyst Fibros. 2011. PMID: 21296036 Free article.

3

Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.

Szakszon K, Felszeghy E, Csízy I, Józsa T, Káposzta R, Balogh E, Oláh E, Balogh I, Berényi E, Knegt AC, Ilyés I. Szakszon K, et al. Among authors: balogh i, balogh e. Eur J Med Genet. 2012 Feb;55(2):109-11. doi: 10.1016/j.ejmg.2011.11.002. Epub 2011 Nov 17. Eur J Med Genet. 2012. PMID: 22138217

4

Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G, Balogh L, Dzsudzsák E, Ajzner E, Szabó L, Csákváry V, Oláh AV. Balogh I, et al. Among authors: balogh l. Mol Syndromol. 2012 Nov;3(5):215-22. doi: 10.1159/000343923. Epub 2012 Nov 9. Mol Syndromol. 2012. PMID: 23293579 Free PMC article.

5

Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.

Szakszon K, Szegedi I, Magyar A, Oláh E, Andrejkovics M, Balla P, Lengyel A, Berényi E, Balogh I. Szakszon K, et al. Among authors: balogh i. Eur J Paediatr Neurol. 2014 Jan;18(1):75-8. doi: 10.1016/j.ejpn.2013.08.002. Epub 2013 Oct 1. Eur J Paediatr Neurol. 2014. PMID: 24119781

6

[Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)].

Szakszon K, Balogh E, Ujfalusi A, Bessenyei B, P Szabó G, Balogh I, Oláh E. Szakszon K, et al. Among authors: balogh i, balogh e. Orv Hetil. 2014 Mar 2;155(9):348-57. doi: 10.1556/OH.2014.29690. Orv Hetil. 2014. PMID: 24566699 Hungarian.

7

[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].

Koczok K, V Oláh A, P Szabó G, Oláh É, Török O, Balogh I. Koczok K, et al. Among authors: balogh i. Orv Hetil. 2015 Oct 18;156(42):1695-702. doi: 10.1556/650.2015.30256. Orv Hetil. 2015. PMID: 26551309 Review. Hungarian.

8

The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts.

Korade Z, Kim HY, Tallman KA, Liu W, Koczok K, Balogh I, Xu L, Mirnics K, Porter NA. Korade Z, et al. Among authors: balogh i. J Med Chem. 2016 Feb 11;59(3):1102-15. doi: 10.1021/acs.jmedchem.5b01696. Epub 2016 Jan 29. J Med Chem. 2016. PMID: 26789657 Free PMC article.

9

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.

Zádori D, Szpisjak L, Madar L, Varga VE, Csányi B, Bencsik K, Balogh I, Harangi M, Kereszty É, Vécsei L, Klivényi P. Zádori D, et al. Among authors: balogh i. Neurol Sci. 2017 Mar;38(3):481-483. doi: 10.1007/s10072-016-2776-6. Epub 2016 Nov 25. Neurol Sci. 2017. PMID: 27888347

10

Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Ivády G, Koczok K, Madar L, Gombos E, Toth I, Gyori K, Balogh I. Ivády G, et al. Among authors: balogh i. J Med Biochem. 2015 Jan;34(1):46-51. doi: 10.2478/jomb-2014-0055. Epub 2014 Oct 8. J Med Biochem. 2015. PMID: 28356823 Free PMC article.

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