Ágnes Till - Search Results

Year	Number of Results
2006	1
2015	1
2017	1
2019	6
2020	4
2021	1
2022	2
2023	4
2024	1

1

[Neurofibromatosis-1 microdeletion syndrome.].

Büki G, Till Á, Zsigmond A, Bene J, Hadzsiev K. Büki G, et al. Among authors: till a. Orv Hetil. 2022 Dec 18;163(51):2041-2051. doi: 10.1556/650.2022.32673. Print 2022 Dec 18. Orv Hetil. 2022. PMID: 36528827 Review. Hungarian.

2

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. Among authors: till a. Neuropediatrics. 2023 Oct;54(5):344-346. doi: 10.1055/a-2104-1614. Epub 2023 Jun 1. Neuropediatrics. 2023. PMID: 37263295 Free PMC article.

3

Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma.

Maász A, Bodó T, Till Á, Molnár G, Masszi G, Labossa G, Herbert Z, Bene J, Hadzsiev K. Maász A, et al. Among authors: till a. Int J Mol Sci. 2023 Aug 17;24(16):12886. doi: 10.3390/ijms241612886. Int J Mol Sci. 2023. PMID: 37629066 Free PMC article.

4

[Gene testing in Treacher Collins syndrome].

Zsigmond A, Till Á, Pintér AL, Maász A, Szabó A, Hadzsiev K. Zsigmond A, et al. Among authors: till a. Orv Hetil. 2020 Dec 27;161(52):2201-2205. doi: 10.1556/650.2020.31945. Orv Hetil. 2020. PMID: 33361506 Hungarian.

5

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Zima J, Eaton A, Pál E, Till Á, Ito YA, Warman-Chardon J, Hartley T, Cagnone G, Melegh BI; Care4Rare Canada; Boycott KM, Melegh B, Hadzsiev K. Zima J, et al. Among authors: till a. Eur J Med Genet. 2020 Feb;63(2):103655. doi: 10.1016/j.ejmg.2019.04.012. Epub 2019 Apr 27. Eur J Med Genet. 2020. PMID: 31034989

6

[MECP2 mutation in a male patient identified in the background of severe epileptic encephalopathy].

Düh A, Till Á, Bánfai Z, Hegyi M, Melegh B, Hadzsiev K. Düh A, et al. Among authors: till a. Orv Hetil. 2019 Dec;160(51):2036-2039. doi: 10.1556/650.2019.31520. Orv Hetil. 2019. PMID: 31838863 Review. Hungarian.

7

Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study.

Sándor-Bajusz KA, Dergez T, Molnár E, Hadzsiev K, Till Á, Zsigmond A, Vástyán A, Csábi G. Sándor-Bajusz KA, et al. Among authors: till a. Front Psychol. 2023 Feb 28;14:1115304. doi: 10.3389/fpsyg.2023.1115304. eCollection 2023. Front Psychol. 2023. PMID: 36925595 Free PMC article.

8

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.

Till Á, Zima J, Fekete A, Bene J, Czakó M, Szabó A, Melegh B, Hadzsiev K. Till Á, et al. Seizure. 2020 Jan;74:8-13. doi: 10.1016/j.seizure.2019.10.019. Epub 2019 Nov 8. Seizure. 2020. PMID: 31765958 Free article.

9

Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.

Czakó M, Till Á, Zima J, Zsigmond A, Szabó A, Maász A, Melegh B, Hadzsiev K. Czakó M, et al. Among authors: till a. Front Genet. 2021 Apr 14;12:635458. doi: 10.3389/fgene.2021.635458. eCollection 2021. Front Genet. 2021. PMID: 33936165 Free PMC article.

10

[A8344G mitochondrial DNA mutation observed in two generations].

Fekete A, Hadzsiev K, Bene J, Nászai A, Mátyás P, Till Á, Melegh B. Fekete A, et al. Among authors: till a. Orv Hetil. 2017 Mar;158(12):468-471. doi: 10.1556/650.2017.30634. Orv Hetil. 2017. PMID: 28328248 Hungarian.

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