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Current Genetic Medicine Reports

IF1.3
论文数18
被引数
期刊论文 18
发表时间
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"Microarray Profiling of Genetic Variants in Patients with Atrial Septal Defect from Indian population: A Case Series Report"印度人群房间隔缺损患者中遗传变异的微阵列分析：病例系列报告
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-05-01
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PREAI
deleteJoshi, Radha; Murthy, Prabhatha Rashmi; Nath, Shaoni; Mandhare, Poonam; Menghal, Ruchira; Sukumaran, Rashmi; Banerjee, Moinak
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Molecular Genetic Investigation of Mucopolysaccharidosis 1 Disease in 10 Patients from Unrelated Pakistani Families10例来自无关巴基斯坦家庭的黏多糖贮积症1型疾病的分子遗传学研究
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-04-27
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PREAI
deleteBatool, Hajira; Zubaida, Bibi; Batool, Tahira; Waheed, Nadia; Cheema, Huma Arshad; Naeem, Muhammad
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Adult Diagnosis of ATN1-Related Neurodevelopmental Disorder: A Case Report of a Mild Phenotype with In-Frame Tandem Duplication in the HX Motif成人ATN1相关神经发育障碍的诊断：一例具有HX基序内框串联重复的轻度表型病例报告
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-04-27
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PREAI
deleteMcGonigle, William; Kapil, Sneha; Swols, Dayna Morel; Barbouth, Deborah
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Enrichment of CYP21A2 Promoter Variant rs150223621 in Congenital Adrenal Hyperplasia Cohorts from the 100 000 Genomes Project100 000 Genomes Project中先天性肾上腺皮质增生症队列中CYP21A2启动子变异rs150223621的富集
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-04-27
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deleteOAAI
deleteGee, Harrison; Hearn, Timothy J.
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Comprehensive Inhibition of Breast Cancer Progression Through CD39 Targeting and Paclitaxel: Modulating Cell Proliferation, Apoptosis, and Migration通过CD39靶向和紫杉醇 comprehensively抑制乳腺癌进展：调控细胞增殖、凋亡和迁移
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-03-14
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PREAI
deleteEslami, Sahand; Ahmadpour Youshanlui, Mahya; Baghbanzadeh, Amir; Jamali, Fereshteh; Baradaran, Behzad
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A New Chapter for Current Genetic Medicine Reports《遗传医学报告》的新篇章
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-02-28
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PREAI
deleteFairbrother, Una L.
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Molecular Architects of Dental Caries: Genes, Proteins, and Cellular Pathway Perspectives: A Systematic Review龋病的分子建筑师：基因、蛋白质和细胞通路视角：一项系统综述
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-02-19
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PREAI
deleteYazdani, Reza; Mohtasham, Nooshin; Mohammadipour, Hamideh Sadat; Sadeghi, Masoumeh; Mohajertehran, Farnaz
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Charcot-Marie-Tooth 4B3 Phenotype Expansion and Confounding FactorsCharcot-Marie-Tooth 4B3 表型扩展和混淆因素
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-02-09
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deleteOAAI
deleteSilva, Lenia; Igreja, Liliana; Cardoso, Marcio; Samoes, Raquel; Pinto, Miguel; Marinho, Antonio; Oliveira, Jorge; Magalhaes, Marina
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The Role of LTF, ENAM, and AMELX Gene Polymorphisms in Dental Caries Susceptibility: A Meta-AnalysisLTF、ENAM和AMELX基因多态性在龋病易感性中的作用：一项Meta分析
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-01-30
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PREAI
deleteShojaei, Donya; Mohammadipour, Hamideh Sadat; Sekandari, Salehe; Dehghani, Mohsen; Mohajertehran, Farnaz
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Spectrum of Structural Variations in Non-Syndromic Hearing Loss in an Indian Population非综合征性听力损失在印度人群中的结构变异谱
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-01-12
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PREAI
deleteArdra, M.; Sindura, K. P.; Davis, P.; Padmaja, M.; Banerjee, Moinak
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Familial Cancer Predisposition Associated with Germline XPC Variant rs1450238352 in a Patient with Metastatic Prostate Cancer: A Case Report与携带生殖系XPC变异rs1450238352的转移性前列腺癌患者相关的家族性癌症易感性：病例报告
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-01-08
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PREAI
deleteKilic, Seda; Erdogan, Ozge Sukruoglu; Demirbas, Betul Celik; Kayim, Zubeyde Yalniz; Ozgel, Merve; Tuncer, Seref Bugra
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Identification of a Novel TNNI3K Variant in a Young Patient with Complete Heart Block: Implications for Genetic Evaluation and Leadless Pacemaker Therapy在一例完全性房室传导阻滞的年轻患者中发现一种新型TNNI3K变异：对基因评估和无导线起搏器治疗的启示
deleteCurrent Genetic Medicine Reports
IF1.3
delete2026-01-07
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PREAI
deleteRobledo, Ariadna; O'leary, Sean; Mohan, Chaitra
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Evaluation of the Sixth Exon of IL12RB1 in Patients Afflicted by the Non-Healing Form of Cutaneous Leishmaniasis非愈合型皮肤利什曼病患者的IL12RB1第六外显子评估
deleteCurrent Genetic Medicine Reports
IF1.3
delete2025-10-16
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PREAI
deleteMoafi, Mohammad; Rezvan, Hossien; Taleban, Roya; Mansourian, Marjan; Sokhanvari, Fatemeh; Ansari, Nazli; Sherkat, Roya
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Whole Exome Sequencing in a Pakistani Family Affected with Demyelinating Hereditary Sensorimotor Polyneuropathy with Spinocerebellar Degeneration全外显子组测序在受累于脱髓鞘性遗传性感觉运动多神经病变伴脊髓小脑退变的一个巴基斯坦家庭中的应用
deleteCurrent Genetic Medicine Reports
IF1.3
delete2025-10-14
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PREAI
deleteUllah, Aman; Khan, Ranjha; Naeem, Muhammad
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Myo-Neuropathy and Congenital Bilateral Cataract Due to a GFER Variant in an Iranian FamilyMyo-Neuropathy及因GFER变异导致的先天性双侧白内障：一例伊朗家族病例
deleteCurrent Genetic Medicine Reports
IF1.3
delete2025-10-08
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PREAI
deleteGhasemi, Aida; Hadei, Seyed Jalaleddin; Salami, Zahra; Saffar, Hiva; Najmabadi, Hossein; Okhovat, Ali Asghar
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Pheochromocytoma in a Patient with Primarily Pulmonary and Cutaneous Manifestations of Birt-Hogg-Dubé Syndrome: A Case Report and Review of the LiteratureBirt-Hogg-Dubé综合征患者以肺部和皮肤为主要表现合并嗜铬细胞瘤：病例报告及文献综述
deleteCURRENT GENETIC MEDICINE REPORTS
IF0
delete2025-09-19
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PREAI
deleteDahak, Sabrina; Kunesh, Jacqueline; Greene, Adina; Patel, Sadiq S.; Laman, Susan D.
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A Rare Case of Cockayne Syndrome Type B in Bahrain: Insights from an ERCC6 Variant巴林一例罕见的考克伦综合征B型病例：来自ERCC6变异的见解
deleteCURRENT GENETIC MEDICINE REPORTS
IF0
delete2025-09-19
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PREAI
deleteKhudair, Aiman D.; Alhakim, Fatima; Khudair, Ahmed D.; Marshall, Rachel A.; Kamblawi, Babaker; Hassan, Hisham Y.
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A Deleterious Frameshift Deletion Variant in Exon 5 of the CYP21A2 Gene Causes Classic Salt-Wasting Congenital Adrenal HyperplasiaCYP21A2基因外显子5中的一个有害移码缺失变异导致经典性盐皮质激素丢失型先天性肾上腺皮质增生症
deleteCURRENT GENETIC MEDICINE REPORTS
IF0
delete2025-09-09
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PREAI
deleteMolavi, Newsha; Aghaei, Shahrzad; Hoseinzadeh, Marziyeh; Khanahmad, Hossein; Hashemipour, Mahin; Tabatabaiefar, Mohammad Amin
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