A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report" [0.03%]
一个携带地中海发热（FMF）独特复杂变异谱系的患者：E148Q-P369S-R408Q三重纯合子-"案例报告"
Nour Abi Chakra,Nadine Yazbeck,Mohammad Omar Fattah et al.
Nour Abi Chakra et al.
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder resulting in recurrent fever, polyserositis, and arthralgias. It is caused by mutations in the MEFV (Mediterranean Fever) gene. We report a Lebanese pediatric pati...
Long-Term Donor Chimerism Monitoring for Relapse Risk Assessment After Pediatric Allo-HSCT [0.03%]
儿童allo-hsct后长期供体嵌合体监测以评估复发风险
Anna Prażmo,Paulina Skowera,Agnieszka Zaucha-Prazmo et al.
Anna Prażmo et al.
Objective: Allo-HSCT is a well-established treatment for several hematological malignancies. Relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains a significant problem and is associated wit...
The Impact of FSHR Polymorphisms (rs6165 and rs6166) on Ovarian Response to Stimulation in Infertile Women with Diminished Ovarian Reserve [0.03%]
FSHR多态性（rs6165和rs6166）对卵巢低反应不孕患者促排卵效果的影响研究
Thuy Thi Thanh Hoang,Son The Trinh,Nhat Ngoc Nguyen et al.
Thuy Thi Thanh Hoang et al.
Background: Diminished ovarian reserve (DOR) remains a significant challenge in IVF, as it is closely associated with poor ovarian response. Beyond well-established predictive of ovarian response, genetic polymorphisms in...
Coexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy [0.03%]
遗传性出血性血管瘤病与 moyamoya 病并存的病例报告：强调潜在的基因协同作用
Shengyang Liu,Linghui Meng,YuZhu Wan et al.
Shengyang Liu et al.
Hereditary hemorrhagic telangiectasia (HHT) coexisting with moyamoya disease (MMD) is exceptionally rare. We report the first case of a 45-year-old female harboring two genetic variants implicated in vascular disease: a pathogenic mutation ...
A Systematic Review of SNPs Screening for Platinum-Related Pharmacodynamics and Pharmacokinetics Genes in Non-Small Cell Lung Cancer for Precision Medicine [0.03%]
系统评价铂类药物精准医疗相关药效学和药代动力学基因的SNP筛查用于非小细胞肺癌患者
Nadiya Nurul Afifah,Annisa Lazuardi Larasati,Indra Wijaya et al.
Nadiya Nurul Afifah et al.
Introduction: Traditional treatments for non-small cell lung cancer (NSCLC), such as chemotherapy, especially platinum-based regimens, often lack efficacy due to the disease's inherent heterogeneity. Precision medicine in...
Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population [0.03%]
染色体13、18和21上20个常染色体STR基因座的遗传多态性及产前诊断中QF-PCR体系的效果评估研究——基于汉族人群样本的研究
Yingwen Liu,Jiangyang Xue,Lulu Yan et al.
Yingwen Liu et al.
Objective: To evaluate the system performance of the 20 autosomal short tandem repeats (STR) polymorphic genetic loci in quality control for prenatal diagnosis. ...
Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes [0.03%]
transcobalaminⅡ缺乏时的肌内注射维生素B12治疗：病例系列临床结果分析
Ali M Sawlan,Msaed Alotaibi,Rayan M Alharbi et al.
Ali M Sawlan et al.
Background: Transcobalamin II (TC II) deficiency is a rare autosomal recessive disorder that typically manifests in early infancy. Symptoms include failure to thrive, vomiting, weakness, and pancytopenia. If left undiagno...
A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis [0.03%]
康拉迪-侯内曼-哈普尔综合征合并肾积水患者EBP基因c.452A>G新突变的报告
Fengchang Qiao,Huasha Zeng,Cuiping Zhang et al.
Fengchang Qiao et al.
Background: Conradi-Hünermann-Happle syndrome (CDPX2, OMIM 302960) is an X-linked dominant inherited disorder caused by variants in the EBP gene, which primarily affects the skin, bones, and eyes. ...
NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation [0.03%]
孕妇血浆源游离DNA的无创产前检测：应用与实施建议
Fco Javier Fernández Martínez,M Mar Gil Mira,Cristina González González et al.
Fco Javier Fernández Martínez et al.
The implementation of non-invasive prenatal testing (NIPT) in maternal plasma, based on cell-free DNA (cfDNA) analysis, has progressed over the last two decades and is now integrated into the Spanish National Health System. However, there r...
Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam [0.03%]
我国某些辅助生殖中心不孕症患者整条染色体结构异常及拷贝数变异的谱图分析研究
Sang Tien Trieu,Minh Duc Pham,Hoang Le et al.
Sang Tien Trieu et al.
Background: Chromosomal abnormalities and variations are significant contributors to reproductive challenges. This study aims to investigate the types and incidence of structural autosomal anomalies and autosomal variatio...