Homozygous astn1 nonsense variant linked to epileptic encephalopathy: a detailed report with unique clinical presentation
| dc.contributor.author | Ayaz, Akif | |
| dc.contributor.author | Sager, Safiye Güneş | |
| dc.contributor.author | Gökşen, Ahmet Sercan | |
| dc.contributor.author | Kök, Kıvanç | |
| dc.contributor.author | Çalışkan, Emine | |
| dc.contributor.author | Alomari, Omar | |
| dc.date.accessioned | 2025-12-08T06:54:49Z | |
| dc.date.available | 2025-12-08T06:54:49Z | |
| dc.date.issued | 2025 | |
| dc.department | İstanbul Medipol Üniversitesi, Uluslararası Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Biyoistatistik ve Tıp Bilişimi Ana Bilim Dalı | |
| dc.description.abstract | ... | |
| dc.identifier.citation | Ayaz, A., Sager, S. G., Gökşen, A. S., Kök, K., Çalışkan, E. ve Alomari, O. (2025). Homozygous astn1 nonsense variant linked to epileptic encephalopathy: a detailed report with unique clinical presentation. Clinical Genetics, 107(4), 475-476. http://dx.doi.org/10.1111/cge.14674 | |
| dc.identifier.doi | 10.1111/cge.14674 | |
| dc.identifier.endpage | 476 | |
| dc.identifier.issn | 0009-9163 | |
| dc.identifier.issn | 1399-0004 | |
| dc.identifier.issue | 4 | |
| dc.identifier.pmid | 39667727 | |
| dc.identifier.scopus | 2-s2.0-85213687012 | |
| dc.identifier.scopusquality | Q2 | |
| dc.identifier.startpage | 475 | |
| dc.identifier.uri | http://dx.doi.org/10.1111/cge.14674 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12511/13299 | |
| dc.identifier.volume | 107 | |
| dc.identifier.wos | WOS:001376743100001 | |
| dc.identifier.wosquality | Q3 | |
| dc.indekslendigikaynak | Web of Science | |
| dc.indekslendigikaynak | Scopus | |
| dc.indekslendigikaynak | PubMed | |
| dc.institutionauthor | Kök, Kıvanç | |
| dc.institutionauthorid | 0000-0002-1502-1600 | |
| dc.language.iso | en | |
| dc.relation.ispartof | Clinical Genetics | |
| dc.relation.publicationcategory | Diğer | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.subject | ASTN1 Gene | |
| dc.subject | Epileptic Encephalopathy | |
| dc.subject | Neurodevelopmental Disorders | |
| dc.subject | Whole Exome Sequencing | |
| dc.title | Homozygous astn1 nonsense variant linked to epileptic encephalopathy: a detailed report with unique clinical presentation | |
| dc.type | Letter |
