 Print previewpersonal data approved: 2022. VII. 05. | Publications |
2021
 from data base, 2022. VII. 05. |
Czakó Márta, Till Ágnes, Zima Judith, Zsigmond Anna, Szabó András, Maász Anita, Melegh Béla, Hadzsiev Kinga: Xp11.2 duplication in females: unique features of a rare copy number variation, FRONTIERS IN GENETICS 12: p. 635458.
type of document: Journal paper/Article
language: English
URL |
2021
from data base, 2022. VII. 05. |
Büki Gergely, Zsigmond Anna, Czakó Márta, Szalai Renáta, Antal Gréta, Farkas Viktor, Fekete György, Nagy Dóra, Széll Márta, Tihanyi Marianna, Melegh Béla, Hadzsiev Kinga, Bene Judit: Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions, FRONTIERS IN GENETICS 12: 673025
type of document: Journal paper/Article
number of independent citations: 2
language: English
URL |
2020
from data base, 2022. VII. 05. |
Zima Judith, Eaton Alison, Pál Endre, Till Ágnes, Ito Yoko A., Warman-Chardon Jodi, Hartley Taila, Cagnone Gael, Melegh Bela I., Boycott Kym M., Melegh Béla, Hadzsiev Kinga: Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type, EUROPEAN JOURNAL OF MEDICAL GENETICS 63: (2) 103655
type of document:
number of independent citations: 7
language: English
URL |
2020
from data base, 2022. VII. 05. |
Till Ágnes, Zima Judith, Fekete Anett, Bene Judit, Czakó Márta, Szabó András, Melegh Béla, Hadzsiev Kinga: Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy, SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 74: pp. 8-13.
type of document: Journal paper/Article
number of independent citations: 2
language: English
URL |
2020
from data base, 2022. VII. 05. |
Szalai Renata, Melegh Bela I, Till Agnes, Ripszam Reka, Csabi Gyorgyi, Acharya Anushree, Schrauwen Isabelle, Leal Suzanne M, Komoly Samuel, Kosztolanyi Gyorgy, Hadzsiev Kinga: 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, EXPERIMENTAL AND MOLECULAR PATHOLOGY 115: 104471
type of document: Journal paper/Article
number of independent citations: 2
language: English
URL |
2020
from data base, 2022. VII. 05. |
Alonso-Pérez Jorge, González-Quereda Lidia, Bello Luca, Guglieri Michela, Straub Volker, Gallano Pia, Semplicini Claudio, Pegoraro Elena, Zangaro Vittoria, Nascimento Andrés, Ortez Carlos, Comi Giacomo Pietro, Ten Dam Leroy, De Visser Marianne, van der Kooi A J, Garrido Cristina, Santos Manuela, Schara Ulrike, Gangfuß Andrea, Løkken Nicoline, Storgaard Jesper Helbo, Vissing John, Schoser Benedikt, Dekomien Gabriele, Udd Bjarne, Palmio Johanna, D'Amico Adele, Politano Luisa, Nigro Vincenzo, Bruno Claudio, Panicucci Chiara, Sarkozy Anna, Abdel-Mannan Omar, Alonso-Jimenez Alicia, Claeys Kristl G, Gomez-Andrés David, Munell Francina, Costa-Comellas Laura, Haberlová Jana, Rohlenová Marie, Elke De Vos, De Bleecker Jan L, Dominguez-González Cristina, Tasca Giorgio, Weiss Claudia, Deconinck Nicolas, Fernández-Torrón Roberto, López de Munain Adolfo, Camacho-Salas Ana, Melegh Béla, Hadzsiev Kinga, Leonardis Lea, Koritnik Blaz, Garibaldi Matteo, de Leon-Hernández Juan Carlos, Malfatti Edoardo, Fraga-Bau Arturo, Richard Isabelle, Illa Isabel, Díaz-Manera Jordi: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy, BRAIN 143: (9) pp. 2696-2708.
type of document:
number of independent citations: 8
language: English
URL |
2019
from data base, 2022. VII. 05. |
Hadzsiev Kinga, Gyorsok Zsuzsanna, Till Agnes, Czakó Márta, Bartsch Oliver: Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect., CLINICAL DYSMORPHOLOGY 28: (3) pp. 137-141.
type of document:
number of independent citations: 3
language: English
URL |
2019
from data base, 2022. VII. 05. |
Pál Endre, Zima Judith, Hadzsiev Kinga, Ito Yoko A, Hartley Taila, Boycott Kym M, Melegh Béla: A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F, EUROPEAN JOURNAL OF MEDICAL GENETICS 62: (7) 103662
type of document:
number of independent citations: 6
language: English
URL |
2019
from data base, 2022. VII. 05. |
Czakó Márta, Till Ágnes, Szabó András, Ripszám Réka, Melegh Béla, Hadzsiev Kinga: Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients, INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 20: (19) 4935
type of document: Journal paper/Article
language: English
URL |
2018
from data base, 2022. VII. 05. |
Papp-Hertelendi Renáta, Tényi Tamás, Hadzsiev Kinga, Hau Lídia, Benyus Zsuzsanna, Csábi Györgyi: First report on the association of SCN1A mutation, childhood schizophrenia and autism spectrum disorder without epilepsy, PSYCHIATRY RESEARCH 270: pp. 1175-1176.
type of document:
number of independent citations: 2
language: English
URL |
| | Number of independent citations to these publications: | 32 |
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