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Molecular Syndromology

IF0.9
论文数67
被引数
期刊论文 67
发表时间
A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye雅贝里-埃拉希综合征的一个新型纯合移码GTPBP2变异:来自土耳其的首例病例报告
delete2026-05-01
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PREAI
deleteSogukpinar, Merve; Atas, Yavuz; Uner, Gulcan; Arslan, Perver; Tugrul, Hazal Ceren; Unlu, Havva Akmaz; Sayici, Basak Uzunyayla
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Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration补充表观签名测试用于变异重分类:考虑变异分类指南的病例报告
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PREAI
deleteBawa, Pratibha; Rzasa, Jessica; Kerkhof, Jennifer; Levy, Michael A.; Sadikovic, Bekim; Gupta, Shifali; Sharma, Rajni; Srivastava, Priyanka; Panigrahi, Inusha; Kaur, Anupriya
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PHRINL Syndrome: A Case of Infantile Cataract and CardiomyopathyPHRINL综合征:一例婴儿白内障和心肌病病例
delete2026-04-01
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PREAI
deleteGulbahce, Aliye; Deniz, Adnan; Tekin, Ismihan Merve; Kara, Bulent
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Cytomolecular Analysis of a Ring X Chromosome in a Patient with Turner Syndrome: A Case Report对一名特纳综合征患者中环状X染色体的细胞分子分析:病例报告
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PREAI
deleteCruz da Silva, Evellyn Karine; Rocha, Ruan Barboza; de Sousa Passos, Paloma; Correa de Oliveira, Edivaldo Herculano; Liehr, Thomas; Serrao das Neves, Daria Barroso; Benzaquem, Denise Correa; Fantin, Cleiton
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Role of Hyperlipidemia-Related PCSK9, APOE, and LRP8 Variants in Restenosis after Stent Implantation in Male Patients: A Case-Control Study高脂血症相关PCSK9、APOE和LRP8变异在男性患者支架植入后再狭窄中的作用:一项病例对照研究
delete2026-03-01
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PREAI
deleteOzkara, Gulcin; Aslan, Ezgi Irmak; Ser, Ozgur Selim; Kilicarslan, Onur; Kucukhuseyin, Ozlem; Bostan, Cem; Yildiz, Ahmet; Ozturk, Oguz; Yilmaz-Aydogan, Hulya
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CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene VariantCHOPS综合征:一种罕见的伴有新发AFF4基因变异的畸形综合征
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PREAI
deleteGokdemir, Irem; Cetin, Sirmen Kizilcan; Kilic, Esra; Buyukyilmaz, Gonul; Deligozoglu, Duygu; Gurbuz, Fatih; Boyraz, Mehmet
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Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion复制依赖机制揭示了未源自父系倒位的复杂dup(18p)/del(18q)重排
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PREAI
deleteBurssed, Bruna; Zamariolli, Malu; Favilla, Bianca Pereira; Brunoni, Decio; Kulikowski, Leslie Domenici; Bellucco, Fernanda Teixeira; Melaragno, Maria Isabel
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Investigation of the Expression Levels of Exosomal miRNAs in the Patients: Myocardial Infarction with Nonobstructive Coronary Arteries探究非阻塞性冠状动脉心肌梗死患者外泌体miRNAs的表达水平
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PREAI
deleteYalcintepe, Sinem; Altay, Servet; Demir, Melik; Sezginer Guler, Hazal; Zhuri, Drenushe; Sut, Necdet; Demir, Selma; Atli, Engin; Atli, Emine Ikbal; Eker, Damla; Gurkan, Hakan
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Gillespie Syndrome: Greek Patient with Novel Mutation and Atypical Presentation - Expansion of the Phenotype and Literature ReviewGillespie综合征:希腊患者携带新型突变及非典型表现——表型扩展与文献综述
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PREAI
deleteLithoxopoulou, Maria; Alvanou, Maria; Pavlidou, Efterpi; Tziola, Tatiana; Babatseva, Evgenia; Drogouti, Eftychia; Tramma, Despoina; Sterpi, Magdalini; Papadopoulou, Ariadni; Seliniotaki, Aikaterini K.; Diamanti, Elissavet; Tsakalidis, Christos; Mataftsi, Asimina; Ververi, Athina
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SHH Variant in a Father and a Son with Tracheobronchial Malformation父与子气管支气管发育不良中的SHH变异
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PREAI
deleteKnottnerus, Suzan J. G.; Prevaes, Sabine M. P. J.; Geerlings, Maartje J.; Kamsteeg, Erik-Jan; Nijman, Joppe; de Jong, Pim A.; de Bie, Charlotte I.; Vorselaars, Adriane D. M.
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Evaluation of Cytogenetic and Molecular Genetic Tests in Patients with Short Stature矮身材患者细胞遗传学和分子遗传学检测评估
delete2026-02-01
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PREAI
deleteArslan, Gulcin; Turan, Benay; Cinleti, Tayfun; Yalcin, Hatice Yelda; Kaya, Ozge Ozer; Onguner, Sevim; Vural, Gulumay; Nasirli, Muge; Birinci, Hakan; Arslan, Emrullah; Eroglu Filibeli, Berna; Er, Eren; Dundar, Bumin Nuri
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