Hadzsiev K - Search Results

1

Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor.

Hadzsiev K, Hegyi M, Fogarasi A, Bodó-Baltavári T, Zsigmond A, Maász A, Szabó A, Till Á. Hadzsiev K, et al. Neuropediatrics. 2023 Oct;54(5):344-346. doi: 10.1055/a-2104-1614. Epub 2023 Jun 1. Neuropediatrics. 2023. PMID: 37263295 Free PMC article.

2

[Genetic testing in hereditary spastic paraplegia].

Hadzsiev K, Balikó L, Komlósi K, Lőcsei-Fekete A, Csábi G, Bene J, Kisfali P, Melegh B. Hadzsiev K, et al. Orv Hetil. 2015 Jan 18;156(3):113-7. doi: 10.1556/OH.2015.30014. Orv Hetil. 2015. PMID: 25577683 Hungarian.

3

[Complex management of children affected with cleft lip and palate associated with genetic syndromes].

Vástyán A, Maros TB, Sándor-Bajusz KA, Vajda K, Hadzsiev K. Vástyán A, et al. Among authors: hadzsiev k. Orv Hetil. 2022 May 22;163(21):826-831. doi: 10.1556/650.2022.32500. Print 2022 May 22. Orv Hetil. 2022. PMID: 35598212 Hungarian.

4

Rehabilitation needs of a genetic counseling unit.

Aszmann M, Hadzsiev K, Kosztolányi G. Aszmann M, et al. Among authors: hadzsiev k. Genet Couns. 2005;16(4):417-9. Genet Couns. 2005. PMID: 16440886 No abstract available.

5

Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Morava E, Wosik H, Kárteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Morava E, et al. Among authors: hadzsiev k. J Inherit Metab Dis. 2008 Jun;31(3):450-6. doi: 10.1007/s10545-008-0822-0. Epub 2008 May 20. J Inherit Metab Dis. 2008. PMID: 18500572

6

Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients.

Kárteszi J, Hollódy K, Bene J, Morava E, Hadzsiev K, Czakó M, Melegh B, Tészás A, Kosztolányi G. Kárteszi J, et al. Among authors: hadzsiev k. Am J Med Genet A. 2004 Nov 15;131(1):106. doi: 10.1002/ajmg.a.30218. Am J Med Genet A. 2004. PMID: 15389714 No abstract available.

7

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.

Dangouloff T, Vrščaj E, Servais L, Osredkar D; SMA NBS World Study Group. Dangouloff T, et al. Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7. Neuromuscul Disord. 2021. PMID: 33985857

8

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E. Kleefstra T, et al. Among authors: hadzsiev k. Eur J Hum Genet. 2011 Feb;19(2):138-44. doi: 10.1038/ejhg.2010.171. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063443 Free PMC article.

9

[Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis].

Kövesdi E, Hadzsiev K, Komlósi K, Kassay M, Barsi P, Melegh B. Kövesdi E, et al. Among authors: hadzsiev k. Orv Hetil. 2013 Jun 9;154(23):914-8. doi: 10.1556/OH.2013.29634. Orv Hetil. 2013. PMID: 23728315 Hungarian.

10

[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].

Hadzsiev K, Szőts M, Fekete A, Balikó L, Boycott K, Nagy F, Melegh B. Hadzsiev K, et al. Orv Hetil. 2017 Oct;158(42):1681-1684. doi: 10.1556/650.2017.30880. Orv Hetil. 2017. PMID: 29037056 Hungarian.

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