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Author

Ágnes Till

Observed name: Agnes Till
Institution: University of Pecs
Observed institution: University of Pecs
ORCID: 0000-0003-4166-755X
Observed ORCID: 0000-0003-4166-755X
OpenAlex ID: A5056220001
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy
2019 · Ágnes Till, Judith Zima, et al. · Seizure · 17
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Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
2023 · Anita Maász, Tímea Bodó, et al. · International Journal of Molecular Sciences · 16
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Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis
2024 · Gréta Antal, Anna Zsigmond, et al. · Pathology & Oncology Research · 15
Generalizált epilepszia hátterében azonosított ioncsatorna-génmutáció ritka formája
2019 · Ágnes Till, Renáta Szalai, et al. · Orvosi Hetilap · 12
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Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type
2019 · Judith Zima, Alison Eaton, et al. · European Journal of Medical Genetics · 12
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings
2020 · Renata Szalai, Bela I. Melegh, et al. · Experimental and Molecular Pathology · 10
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019 · Kinga Hadzsiev, Zsuzsanna Gyorsok, et al. · Clinical Dysmorphology · 10
Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor
2023 · Kinga Hadzsiev, Márta Hegyi, et al. · Neuropediatrics · 9
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Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study
2023 · Kinga Amália Sándor-Bajusz, Tímea Dergez, et al. · Frontiers in Psychology · 6
Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome—Identification of Two Novel Mutations by Next-Generation Sequencing
2024 · Gréta Antal, Anna Zsigmond, et al. · International Journal of Molecular Sciences · 4
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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
2022 · Renata Szalai, Agnes Till, et al. · Molecular Syndromology · 4
Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation
2021 · Márta Czakó, Ágnes Till, et al. · Frontiers in Genetics · 4
Génvizsgálat Treacher Collins-szindrómában
2020 · Anna Zsigmond, Ágnes Till, et al. · Orvosi Hetilap · 4
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Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients
2019 · Márta Czakó, Ágnes Till, et al. · International Journal of Molecular Sciences · 4
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Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly
2024 · Renata Szalai, Agnes Till, et al. · Molecular Genetics and Metabolism Reports · 3
[Ganciclovir treatment of congenital cytomegalovirus infection].
2006 · Agnes Till, Barnabás Rózsai, et al. · PubMed · 3
Staphylococcus lugdunensis isolated from axillary apocrine glands of hidradenitis suppurativa patients.
1995 · Ágnes Till, Alison Layton, et al. · Journal of Investigative Dermatology · 3
Uncovering Rare Structural Chromosomal Rearrangements: Insights from Molecular Cytogenetics
2025 · Márta Czakó, András Szabó, et al. · International Journal of Molecular Sciences · 2
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Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder
2024 · Anna Zsigmond, Ágnes Till, et al. · International Journal of Molecular Sciences · 2
Két generációban megfigyelhető mitokondriális DNS A8344G mutáció
2017 · Anett Fekete, Kinga Hadzsiev, et al. · Orvosi Hetilap · 2
NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy
2024 · Renata Szalai, Kinga Hadzsiev, et al. · International Journal of Molecular Sciences · 1
Neurofibromatosis-1 microdeletiós szindróma. Molekuláris genetika és klinikai heterogenitás
2022 · Gergely Büki, Ágnes Till, et al. · Orvosi Hetilap · 1
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Súlyos epilepsziás encephalopathia hátterében azonosított MECP2-gén-mutáció fiúbetegben
2019 · Adrienn Düh, Ágnes Till, et al. · Orvosi Hetilap · 1
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A 22-es csapdája? A 22q11 kromoszóma deletiós szindróma változatos klinikai megjelenése két eset kapcsán
2015 · Ágnes Till, Kinga Hadzsiev, et al. · Orvosi Hetilap · 1
Koraszülöttek komplex fejlődésneurológiai ellátása a Pécsi Tudományegyetem Klinikai Központjában
2026 · Bálint Szőts, Ágnes Till, et al. · Orvosi Hetilap
Works count: 31
Citation count: 145
H-index: 8
I10-index: 7
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