1.
Nagy, Nikoletta ✉ ; Abdolreza, Aliasgari* ; Pál, Margit ; Bokor, Barbara Anna ; Amarilla, Barcsay-Veres ; Varga, Noémi Ágnes ; Medvecz, Márta ; Szabó, Viktória ; Széll, Márta
Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype
JOURNAL OF DERMATOLOGICAL SCIENCE (2025)
DOI WoS PubMed
Publication:36102434 Published Core Journal Article (Comment, Correction ) Scientific
Comment, Correction (Journal Article) | Scientific[36102434] [Approved]
2.
Molnár, Mária Judit
Génterápia
In: Szekanecz, Zoltán; Nagy, György; Szűcs, Gabriella (eds.) Klinikai immunológia
Bp, Hungary : Medicina Kiadó Zrt. (2025) 1,052 p. pp. 310-315. , 6 p.
Publication:36052544 Validated Core Chapter in Book (Chapter ) Scientific
Chapter (Chapter in Book) | Scientific[36052544] [Validated]
3.
Jimoh, Idris Janos ; Balicza, Peter ; Szlepak, Tamas ; Csaban, Dora ; Gal, Aniko ; Geresi, Adrienn ; Grosz, Zoltan ; Palasti, Agnes ; Boczan, Judit ; Klivenyi, Peter et al.
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort
CLINICAL GENETICS Paper: in press , 10 p. (2025)
DOI WoS Scopus PubMed SZTE Publicatio
Publication:35791980 Published Core Citing Journal Article (Article ) Scientific
Article (Journal Article) | Scientific[35791980] [Approved]
4.
Jang, D.-G. ; Federico, A. ; Savelieff, M.G. ; Grisold, W. ; Mancuso, M. ; Molnar, M.J. ; Feldman, E.L. ; Reynolds, E.L. ✉ ; World Federation of Neurology Subspecialist Group on Rare Neurologic Diseases (Collaborative Organization)
Awareness and care practices for rare neurologic diseases among senior neurologists: A global survey
JOURNAL OF THE NEUROLOGICAL SCIENCES 470 Paper: 123395 , 9 p. (2025)
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Publication:35726113 Validated Core Citing Journal Article (Study Group ) Scientific
Study Group (Journal Article) | Scientific[35726113] [Validated]
5.
Szabó, Viktória ✉ ; Varsányi, Balázs ; Barboni, Mirella ; Takács, Ágnes ; Knézy, Krisztina ; Molnár, Mária Judit ; Nagy, Zoltán Zsolt ; György, Bence ; Rivolta, Carlo
Insights into eye genetics and recent advances in ocular gene therapy.
MOLECULAR AND CELLULAR PROBES 79 Paper: 102008 , 19 p. (2025)
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Publication:35707045 Validated Core Citing Journal Article (Survey paper ) Scientific
Citing papers: 2 | Independent citation: 2 | Self citation: 0 | Unknown citation: 0 | Number of citations in WoS: 2 | Number of citations in Scopus: 2 | WoS/Scopus assigned: 2 | Number of citations with DOI: 2
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All citations+mentions: 2, External citations: 2, Self citations: 0, Unhandled citations: 0
6.
Bunford, Nóra ✉ ; Ágrez, Kristóf ; Hámori, György ; Koller, Júlia ; Pulay, Attila ; Nemoda, Zsófia ; Réthelyi, János M.
Electrophysiological indices of reward anticipation as ADHD risk and prognostic biomarkers
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY Paper: in press (2025)
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Publication:35516593 Validated Core Citing Journal Article (Article ) Scientific
Article (Journal Article) | Scientific[35516593] [Validated]
7.
Nagy, Zsófia ; Buzai-Kiss, Lilla ; Trombitas, Barbara ; Pál, Margit ; Géresi, Adrienn ; Salamon, András ; Klivényi, Péter ; Szell, Marta ; Molnar, Maria Judit
ATXN1 intermediate repeat expansion among the Hungarian C9orf72 positive cases
EUROPEAN JOURNAL OF HUMAN GENETICS 32 : Suppl 2 pp. 1467-1468. Paper: P11.013.A , 2 p. (2024)
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Publication:36052793 Validated Core Journal Article (Abstract ) Scientific
Abstract (Journal Article) | Scientific[36052793] [Validated]
8.
Konya, Marton ; Czimbalmos, Agnes ; Loczi, Lotti ; Koi, Tamas ; Turan, Caner ; Nagy, Rita ; Hegyi, Péter ; Varbiro, Szabolcs ; Gal, Aniko
A comprehensive analysis of rare chromosomal abnormalities for individual chromosomes based on 582,996 non-invasive prenatal test (NIPT) results: a systematic review and meta-analysis
EUROPEAN JOURNAL OF HUMAN GENETICS 32 : Suppl. 2 Paper: P03.023.C (2024)
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Publication:35865431 Validated Core Journal Article (Abstract ) Scientific
Abstract (Journal Article) | Scientific[35865431] [Validated]
9.
Varga, N ; Balicza, P ; Zadori, D ; Kapas, I ; Salamon, A ; Grosz, Z ; Szpisjak, L ; Harangi, M ; Arányi, Z ; Klivényi, P et al.
The first clinical and genetic characterization of patients with cerebrotendinous xanthomatosis in Hungary
EUROPEAN JOURNAL OF NEUROLOGY 31 : Suppl. 1 Paper: EPO-305 (2024)
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Publication:35865308 Validated Core Journal Article (Abstract ) Scientific
Abstract (Journal Article) | Scientific[35865308] [Validated]
10.
Szlepák, Tamás ; Kálmán, Bernadette ; Sepp, Róbert ; Molnár, Mária Judit
Co-occurance of rare variants in lysosomal storage disease associated genes and other rare neurodegenerative disase associated genes
EUROPEAN JOURNAL OF HUMAN GENETICS 32 : Suppl. 2 pp. 1083-1083. Paper: EP11.059 , 1 p. (2024)
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Publication:35865227 Admin approved Core Journal Article (Abstract ) Scientific
Abstract (Journal Article) | Scientific[35865227] [Admin approved]
2025-05-25 06:50