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Application of Clinical Genetics 封面图

Application of Clinical Genetics

IF2.8
论文数38
被引数874
期刊论文 38
发表时间
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Identification of Novel Co-Occurring ZNF711 and SRCAP Variants in a Child with Neurodevelopmental Disorders Through Exome Sequencing通过全外显子测序鉴定神经发育障碍患儿中新型共发生的ZNF711和SRCAP变异
deleteApplication of Clinical Genetics
IF2.8
delete2026-09-11
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deleteTingting Liu, Mingtao Huang, Min Dai, Yixuan Liang, Cuiping Zhang, Jianxin Tan, Fengchang Qiao, Yan Wang
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Radiological Findings and Genetic Rearrangements in Paediatric Patients with Acute Lymphoblastic Leukaemia儿科急性淋巴细胞白血病患者影像学表现及基因重排
deleteApplication of Clinical Genetics
IF2.8
delete2026-08-21
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deleteAgata Rocka; Maria Suchcicka; Magdalena Maria Woźniak; Monika Lejman
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Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China中国对低水平母源性生殖系嵌合体亚兆碱基缺失的科尼利亚·德朗格综合征进行植入前遗传学检测
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IF2.8
delete2026-07-21
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deleteLulu Meng; Yan Wang; Junqiang Zhang; Ran Zhou; Xingxing Wang; Fengchang Qiao; Qinxin Zhang; Cheng Wan; Shujing Jiao; Ping Hu; Zhengfeng Xu
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Generalized Nevus Lipomatosus Cutaneous Superficialis: A Case Report with Comprehensive Genetic Analysis泛发性脂性皮肤浅表性痣：一项伴有全面基因分析的病例报告
deleteApplication of Clinical Genetics
IF2.8
delete2026-07-08
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deleteYe Qiu, Rina Su, Xiangxi Su, Yankun Zhang, Yaqi Tan, Xiuying Zhang, Fang Liu
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Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent常规切除，罕见诊断：青少年孤立性神经纤维瘤促使进行NF1筛查
deleteApplication of Clinical Genetics
IF2.8
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deleteAlquaimi, Manal Mubarak
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TNF-α rs1800629 Polymorphism in Vietnamese COPD Patients: Exploratory Evidence for Recessive Protective Association and Clinical Correlates越南COPD患者中TNF-α rs1800629多态性：隐性保护关联及临床相关性的探索性证据
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IF2.8
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deleteNguyen, Ha Minh; Le, Duong Hoang Huy; Ho, Tham Thi Hong; Nguyen, Phuc Doan Huynh Anh; Nguyen, Thinh Hung; Phan, Van Nguyen Thanh; Nguyen, Tuan Huu Ngoc
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Differential Responses to Targeted Therapies in Non-Small Cell Lung Cancer: A Comparative Analysis of Outcomes in Patients with Single EGFR Mutation and Concurrent Gene Alterations非小细胞肺癌对靶向治疗的不同反应：携带单一EGFR突变和并发基因改变患者的结局比较分析
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delete2025-07-31
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deleteLinh Tu Le; Nhung Viet Nguyen; Huy Le Trinh; Quang Van Le; Trang Huyen Thi Dao; Son Nguyen Ngoc; Luong Dinh Van; Trang Thi Nguyen
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A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q – “Case Report”家族性地中海热（FMF）患者中独特的复合变异谱：三重纯合子E148Q-P369S-R408Q——"病例报告"
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deleteNour Abi Chakra; Nadine Yazbeck; Mohammad Omar Fattah; Rima Hanna-Wakim
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Long-Term Donor Chimerism Monitoring for Relapse Risk Assessment After Pediatric Allo-HSCT儿童allo-HSCT后复发风险评估的长期供者嵌合状态监测
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deleteAnna Prażmo; Paulina Skowera; Agnieszka Zaucha-Prazmo; Monika Lejman
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The Impact of FSHR Polymorphisms (rs6165 and rs6166) on Ovarian Response to Stimulation in Infertile Women with Diminished Ovarian ReserveFSHR基因多态性（rs6165和rs6166）对卵巢储备功能下降不孕妇女促排卵反应的影响
deleteapplication of clinical genetics
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deleteThuy Thi Thanh Hoang; Son The Trinh; Nhat Ngoc Nguyen; Minh Nguyet Ho; Minh Dinh Pham; Nhung Thi Hoang; Sang Tien Trieu; Hung Sy Ho
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Coexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy遗传性出血性毛细血管扩张症与烟雾病并存：一例突出潜在遗传协同作用的病例报告
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deleteShengyang Liu; Linghui Meng; YuZhu Wan; Shanfeng Liu; Li Shi
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A Systematic Review of SNPs Screening for Platinum-Related Pharmacodynamics and Pharmacokinetics Genes in Non-Small Cell Lung Cancer for Precision Medicine针对非小细胞肺癌精准医学中铂类药物相关药效学和药代动力学基因的SNPs筛查系统综述
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deleteNadiya Nurul Afifah; Annisa Lazuardi Larasati; Indra Wijaya; Neily Zakiyah; Ruri Intania; Hideru Obinata; Melisa Intan Barliana
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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中国汉族人群中13号、18号和21号染色体上20个常染色体STR位点的遗传多态性及QF-PCR性能评估在产前诊断中的应用
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deleteYingwen Liu; Jiangyang Xue; Lulu Yan; Changshui Chen; Shumin Zhao; Haibo Li
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Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes肌肉注射维生素B12治疗 transcobalamin II 缺乏症：病例系列临床结局
deleteapplication of clinical genetics
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delete2025-06-05
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deleteAli M Sawlan; Msaed Alotaibi; Rayan M Alharbi; Nimr A Alwahbi; Manar Alshammary; Ali Mohammad Alasmari; Fuad Al Mutairi
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A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi–Hünermann–Happle Syndrome Presenting with Hydronephrosis在一名伴有肾积水、患有Conradi–Hünermann–Happle综合征的女孩中鉴定出一种新型的EBP c.452A>G突变。
deleteapplication of clinical genetics
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delete2025-05-14
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deleteFengchang Qiao; Huasha Zeng; Cuiping Zhang, Yan Wang, Yuguo Wang, Ran Zhou, Lulu Meng, Ping Hu, Zhengfeng Xu
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The Frequency of CYP2C19*2 Gene Polymorphisms in Burkina Faso Patients Treated with Clopidogrel布基纳法索接受氯吡格雷治疗的患者中CYP2C19*2基因多态性的频率
deleteapplication of clinical genetics
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deleteYves Donald Kagambèga; Abdoul Karim Ouattara; Teega-Wendé Clarisse Ouédraogo; Lassina Traoré; Nobila Valentin Yaméogo; Jacques Simpore
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NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation母体血浆来源cfDNA的无创产前检测：应用与实施指南
deleteapplication of clinical genetics
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delete2025-04-26
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deleteFco Javier Fernández Martínez; M Mar Gil Mira; Cristina González González; Irene Madrigal Bajo; Raluca Oancea Ionescu; Carmen Orellana Alonso; The group of experts agreed with the AEDP (Spanish Association of Prenatal Diagnosis) and AEGH (Spanish Association of Human Genetics):Fco. Javier Fernández Martínez, M. Mar Gil Mira, Cristina González González, Irene Madrigal Bajo, Raluca Oancea Ionescu, Carmen Orellana Alonso On behalf of the group of experts agreed with the AEDP (Spanish Association of Prenatal Diagnosis) and AEGH (Spanish Association of Human Genetics)
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Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam越南部分IVF中心不孕症患者结构常染色体异常及常染色体变异的调查研究
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deleteSang Tien Trieu; Minh Duc Pham; Hoang Le; Hien Van Vo; Phong Van Nguyen; Tuan Van Tran; Nhat Ngoc Nguyen; Son The Trinh
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Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience特纳综合征中核型与诊断年龄对躯体特征及合并症的关联：一项单中心经验
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deleteBeáta Vida; Olga Török; Enikő Felszeghy; Mónika Orosz; Zoárd Tibor Krasznai; Zoltán Tándor; Attila Jakab; Tamás Deli
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Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reportsα1-抗胰蛋白酶缺乏性慢性阻塞性肺疾病和肺气肿患者的血管病理学：病例报告
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deleteMatthew Gordon; Andrew J Gangemi; Eric L Sandwith; Maruti Kumaran; Friedrich Kueppers
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