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Pál, Margit ; Vetró, Éva* ; Nagy, Nikoletta ✉ ; Nagy, Dóra ; Horváth, Emese ; Bokor, Barbara Anna ; Varga, Anita ; Seres, László ; Oláh, Judit ; Piffkó, József et al.
Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS
CURRENT ISSUES IN MOLECULAR BIOLOGY 45 : 7 pp. 5293-5304. , 12 p. (2023)
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Publication:34035935 Validated Core Journal Article (Article ) Scientific
Citing papers: 2 | Independent citation: 2 | Self citation: 0 | Unknown citation: 0 | Number of citations with DOI: 2
Article (Journal Article) | Scientific[34035935] [Validated]
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12.
Ádám, É. ; Leitgeb, B. ; Danis, J. ; Kelemen, E. ; Pál, M. ; Nagy, N. ; Rajan, N. ; Szell, M.
887 Truncated pathogenic CYLD variants cause differential cellular events
JOURNAL OF INVESTIGATIVE DERMATOLOGY 143 : 5 p. S152 (2023)
DOI WoS Other URL
Publication:33927255 Admin approved Core Journal Article (Abstract ) Scientific
Abstract (Journal Article) | Scientific[33927255] [Admin approved]
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Nagy, N. ; Pal, M. ; Adam, E. ; Danis, J. ; Neller, A. ; Kun, J. ; Urban, P. ; Gyenesei, A. ; Szell, M.
Epigenetically altered expression of the CYLD interacting BAG6 gene is a putative phenotype modifying factor in CYLD cutaneous syndrome
JOURNAL OF INVESTIGATIVE DERMATOLOGY 143 : 5 pp. S140-S140. Paper: 814 , 1 p. (2023)
DOI WoS Other URL
Publication:33927219 Admin approved Core Journal Article (Abstract ) Scientific
Abstract (Journal Article) | Scientific[33927219] [Admin approved]
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Pál, Margit ✉ ; Nagy, Dóra* ; Neller, Alexandra ; Farkas, Katalin ; Leprán-Török, Dóra ; Nagy, Nikoletta ; Füstös, Dalma ; Nagy, Roland ; Németh, Adrienne ; Szilvássy, Judit et al.
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 24 : 8 Paper: 7401 , 14 p. (2023)
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Publication:33764466 Validated Core Citing Journal Article (Article ) Scientific
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15.
Nagy, Zsófia Flóra ; Sonkodi, Balázs* ✉ ; Pál, Margit ; Klivényi, Péter ; Széll, Márta
Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways
BIOMEDICINES 11 : 3 Paper: 933 , 12 p. (2023)
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Publication:33707952 Validated Core Citing Journal Article (Article ) Scientific
Citing papers: 8 | Independent citation: 2 | Self citation: 6 | Unknown citation: 0 | Number of citations in WoS: 7 | Number of citations in Scopus: 8 | WoS/Scopus assigned: 8 | Number of citations with DOI: 8
Article (Journal Article) | Scientific[33707952] [Validated]
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F., Nagy Zsófia ; Salamon, András ; Pál, Margit ; Klivényi, Péter ; Széll, Márta
Delineating the genetic heterogeneity behind a movement disorder: dystonia (2022)
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Publication:33672156 Published Core Miscellaneous (Not classified ) Scientific
Not classified (Miscellaneous) | Scientific[33672156] [Approved]
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Janáky, Márta ; Vizvári, Eszter ; Nagy, Dóra ; Pál, Margit ; Szél, Márta ; Mirjana, Bjelos ; Tóth-Molnár, Edit
A génkezelés hatása egy RPE65 génmutációt hordozó testvérpárnál. Esetbemutatás
SZEMÉSZET 159 : Supplementum I pp. 60-60. , 1 p. (2022)
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Abstract (Journal Article) | Scientific[33580398] [Validated]
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Ádám, É. ; Kelemen, E. ; Danis, J. ; Nagy, N. ; Pál, M. ; Rajan, N. ; Kemény, L. ; Széll, M.
481 Functional studies on the pathogenic truncating mutations of CYLD
JOURNAL OF INVESTIGATIVE DERMATOLOGY 142 : 12 p. S263 (2022)
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Publication:33261343 Published Core Journal Article (Abstract ) Scientific
Abstract (Journal Article) | Scientific[33261343] [Approved]
19.
Rethi-Nagy, Zsuzsanna ; Abraham, Edit* ; Udvardy, Katalin* ; Klement, Eva ; Darula, Zsuzsanna ; Pal, Margit ; Katona, Robert L. ; Tubak, Vilmos ; Pali, Tibor ; Kota, Zoltan et al.
STABILON, a Novel Sequence Motif That Enhances the Expression and Accumulation of Intracellular and Secreted Proteins
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 23 : 15 Paper: 8168 , 18 p. (2022)
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20.
Nagy, Zsófia Flóra ✉ ; Pál, Margit ; Salamon, András ; Kafui Esi Zodanu, Gloria ; Füstös, Dalma ; Klivényi, Péter ; Széll, Márta
Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants
NEUROBIOLOGY OF AGING: AGE-RELATED PHENOMENA NEURODEGENERATION AND NEUROPATHOLOGY 116 pp. 1-11. , 11 p. (2022)
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Article (Journal Article) | Scientific[32818837] [Validated]
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2024-04-20 06:11