Ágnes Till - Univ Pecs, Med Sch, Dept Med Genet, Pecs, Hungary

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论文共 33 篇作者统计合作学者相似作者

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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

Greta Antal,Anna Zsigmond,Agnes Till,Eniko Orsi,Ildiko Szanto,Gergely Buki,Laszlo Kereskai, Zsuzsanna Herbert,Kinga Hadzsiev,Judit Bene

PATHOLOGY & ONCOLOGY RESEARCH (2024)

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

Anna Zsigmond,Agnes Till,Judit Bene, Marta Czako,Alexandra Miko,Kinga Hadzsiev

International journal of molecular sciencesno. 11 (2024): 5709-5709

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

Gréta Antal,Anna Zsigmond,Ágnes Till,András Szabó, Anita Maász,Judit Bene,Kinga Hadzsiev

International journal of molecular sciencesno. 21 (2024)

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

Renata Szalai,Kinga Hadzsiev,Agnes Till,Andras Fogarasi,Timea Bodo,Gergely Buki,Zsolt Banfai,Judit Bene

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 11 (2024)

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#1558 Mutational Spectrum of X-linked Hypophosphatemia (XLH) in Hungarian Patients

Istvan Balogh,Tamas Szabo,Gyorgy Reusz,Balint Mikes,Katalin Koczok,Laszlo Madar,Orsolya Nagy,Agnes Till, Krisztina Meichelbeck,Gyorgy Pfliegler,Andras Szabo,Anna Lengyel

NEPHROLOGY DIALYSIS TRANSPLANTATION (2024): I1952-I1952

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Importance and Application of WES in Fetal Genetic Diagnostics: Identification of Novel ASPM Mutation in a Fetus with Microcephaly

Renata Szalai,Agnes Till,Attila Gyenesei,Judit Bene,Kinga Hadzsiev

Molecular genetics and metabolism reports (2024): 101056-101056

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White matter abnormality as a rare feature in Helsmoortel-van der Aa syndrome

Gergely Buki,Agnes Till,Anna Zsigmond,Attila Gyenesei,Bence Galik,Kinga Hadzsiev,Judit Bene

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 453-453

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Cognitive Functioning and Clinical Characteristics of Children with Non-Syndromic Orofacial Clefts: A Case-Control Study

Kinga Amalia Sandor-Bajusz,Timea Dergez, Edit Molnar,Kinga Hadzsiev,Agnes Till,Anna Zsigmond,Attila Vastyan,Gyorgyi Csabi

Frontiers in psychology (2023)

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A novel missense mutation in SLC2A1 gene responsible for Glut1 Deficiency Syndrome

Renata Szalai,Agnes Till,Judit Bene,Anita Maasz,Kinga Hadzsiev

EUROPEAN JOURNAL OF HUMAN GENETICS（2023）

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

Kinga Hadzsiev,Marta Hegyi,Andras Fogarasi,Timea Bodo-Baltavari,Anna Zsigmond,Anita Maasz,Andras Szabo,Agnes Till

Neuropediatrics（2023）

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