https://m2.mtmt.hu/ hun 2026-09-23 04:23 JournalArticle 35674369 VALIDATED true Department of Pediatric Dermatology, Heim Pal National Pediatric Institute, Budapest, 1089, Hungary Faculty of Medicine, Semmelweis University, Budapest, 1085, Hungary Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, 7622, Hungary Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, 1085, Hungary Department of Internal Medicine, Heim Pal National Pediatric Institute, Budapest, 1089, Hungary Department of Family Care Methodology, Institute of Health Science, Semmelweis University, Budapest, 1085, Hungary Export Date: 03 June 2026; Cited By: 3; Correspondence Address: K. Veres; Department of Pediatric Dermatology, Heim Pal National Pediatric Institute, Budapest, 1089, Hungary; email: klariii@yahoo.com 0 false 2026-09-10T12:41:43.351+0000 2026-06-03T02:33:19.587+0000 2025-01-09T11:52:55.098+0000 true 10015206 Áncsán Gizella /api/admin/10015206 Admin true 10015206 2026-06-03T02:33:19.447+0000 2025-02-12T09:23:05.512+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Veres, K. Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study true true /api/journal/10056704 REVIEWED true false 10056704 false 10056704 true 2227-9059 Journal FOREIGN 13 1 146 146 19 2025 true true 2025 true true true false true false GOLD 2026-09-10 true https://doi.org/10.3390/biomedicines13010146 7 0 7 5 2 6 7 4 4 5 5 4 4 5 2 0 7 5 7 5 0 3 3 Folyóiratcikk Journal Article 24 7 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2025 0 2 1 2 1 2026 0 5 4 5 4 Q1 false 10026171 false false false 2025-02-06T09:10:53.403+0000 Bőr-, Nemikórtani és Bőronkológiai Klinika (SE / AOK / K); 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<span class="author-name" >Nagy B. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Ember Z. </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10015867"><a href="/gui2/?type=authors&mode=browse&sel=10015867" target="_blank">Bene J. (<span class="authorship-author-name">Bene Judit</span> <span class="authorAux-mtmt"> Klinikai genetika</span>) </a> </span> <span class="author-affil"><span title="Pécsi Tudományegyetem">PTE</span>/<span title="Általános Orvostudományi Kar">ÁOK</span>/Orvosi Genetikai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025529"><a href="/gui2/?type=authors&mode=browse&sel=10025529" target="_blank">Hadzsiev K. (<span class="authorship-author-name">Hadzsiev Kinga</span> <span class="authorAux-mtmt"> Genetika</span>) </a> </span> <span class="author-affil"><span title="Pécsi Tudományegyetem">PTE</span>/<span title="Általános Orvostudományi Kar">ÁOK</span>/Orvosi Genetikai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10012260"><a href="/gui2/?type=authors&mode=browse&sel=10012260" target="_blank">Medvecz M. (<span class="authorship-author-name">Medvecz Márta</span> <span class="authorAux-mtmt"> Bőrgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Bőr-, Nemikórtani és Bőronkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10026171"><a href="/gui2/?type=authors&mode=browse&sel=10026171" target="_blank">Szabó L. (<span class="authorship-author-name">Szabó László</span> <span class="authorAux-mtmt"> Gyermekgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Egészségtudományi Kar">ETK2007</span>/Családgondozási Módszertani Tanszék</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szalai Z.Z. </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;35674369" target="_blank">Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study</a></div> <div> <span class="journal-title">BIOMEDICINES</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2227-9059">2227-9059</a>)</span>: <span class="journal-volume">13</span> <span class="journal-issue">1</span> <span class="page"> Paper 146. 19 p. </span> <span class="year">(2025)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_GOLD" title=" Gold "> <a style="color:blue" title="10.3390/biomedicines13010146" target="_blank" href="https://doi.org/10.3390/biomedicines13010146"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001404547000001" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001404547000001"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85215942089" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85215942089"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="39857730" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=39857730&dopt=Abstract"> PubMed </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="https://www.mdpi.com/2227-9059/13/1/146" target="_blank" href="https://www.mdpi.com/2227-9059/13/1/146"> Egyéb URL </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Biochemistry, Genetics and Molecular Biology (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q1</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 7</span> | Független: 5 | Függő: 2 | Nem jelölt: 0 | WoS jelölt: 4 | Scopus jelölt:&nbsp;4 | WoS/Scopus jelölt:&nbsp;5 | DOI jelölt:&nbsp;7 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;35674369&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 3 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 35674369</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Utolsó módosítás: 2026.06.03. 04:33 Milánkovics Róbert (PTE ÁOK admin 4) </div> <pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Department of Pediatric Dermatology, Heim Pal National Pediatric Institute, Budapest, 1089, Hungary Faculty of Medicine, Semmelweis University, Budapest, 1085, Hungary Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, 7622, Hungary Department of Dermatology, Venereology and Dermatoon...</pre> </div></div>