Till Á - Search Results

1

Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.

Antal G, Zsigmond A, Till Á, Szabó A, Maász A, Bene J, Hadzsiev K. Antal G, et al. Among authors: till a. Int J Mol Sci. 2024 Oct 23;25(21):11400. doi: 10.3390/ijms252111400. Int J Mol Sci. 2024. PMID: 39518953 Free PMC article.

2

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.

Czakó M, Till Á, Szabó A, Ripszám R, Melegh B, Hadzsiev K. Czakó M, et al. Among authors: till a. Int J Mol Sci. 2019 Oct 5;20(19):4935. doi: 10.3390/ijms20194935. Int J Mol Sci. 2019. PMID: 31590400 Free PMC article.

3

[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.

4

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.

5

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder.

Zsigmond A, Till Á, Bene J, Czakó M, Mikó A, Hadzsiev K. Zsigmond A, et al. Among authors: till a. Int J Mol Sci. 2024 May 24;25(11):5709. doi: 10.3390/ijms25115709. Int J Mol Sci. 2024. PMID: 38891897 Free PMC article.

6

NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.

Szalai R, Hadzsiev K, Till A, Fogarasi A, Bodo T, Buki G, Banfai Z, Bene J. Szalai R, et al. Among authors: till a. Int J Mol Sci. 2024 May 24;25(11):5732. doi: 10.3390/ijms25115732. Int J Mol Sci. 2024. PMID: 38891919 Free PMC article.

7

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.

8

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.

9

[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.

10

Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate.

Szalai R, Till A, Szabo A, Melegh B, Hadzsiev K, Czako M. Szalai R, et al. Among authors: till a. Mol Syndromol. 2023 Apr;14(2):109-122. doi: 10.1159/000525976. Epub 2022 Oct 27. Mol Syndromol. 2023. PMID: 37064343 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

191 results

Search Page

Filters