{"title":"基于下一代DNA测序技术检测新型NF1变异,以及神经纤维瘤病的基因型-表型特征","authors":"A. Kiraz","doi":"10.14744/etd.2022.90023","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":43995,"journal":{"name":"Erciyes Medical Journal","volume":"17 1","pages":""},"PeriodicalIF":0.3000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Detection of Novel NF1 Variants with Next Generation-based DNA Sequencing Technology, and Genotype-Phenotype Characteristics of Neurofibromatosis\",\"authors\":\"A. Kiraz\",\"doi\":\"10.14744/etd.2022.90023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":43995,\"journal\":{\"name\":\"Erciyes Medical Journal\",\"volume\":\"17 1\",\"pages\":\"\"},\"PeriodicalIF\":0.3000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Erciyes Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.14744/etd.2022.90023\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Erciyes Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14744/etd.2022.90023","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
期刊介绍:
Erciyes Medical Journal (Erciyes Med J) is the international, peer-reviewed, open access publication of Erciyes University School of Medicine. The journal, which has been in continuous publication since 1978, is a publication published on March, June, September, and December. The publication language of the journal is English. The journal accepts clinical and experimental research articles in different fields of medicine, original case reports, letters to the editor and invited reviews for publication. Research articles and case reports on regionally frequent and specific medical topics are prioritized. Manuscripts on national and international scientific meetings and symposiums and manuscripts sharing scientific correspondence and scientific knowledge between authors and their readers are also published.