Case Reportposted 2025-12-16 14:12:07
Effects of ADAM10 deletion on APP shedding, synapse and synaptic plasticity in adult mice
Qiulan Wei, Shuihui Liu, Yan Liang, Jianlong Zhuang, Peng Li, Changwen Zhou, Zhongxing Huang
Under Review
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Research Articleposted 2025-12-15 16:17:34
Genotypic and Phenotypic Spectrum of PRRT2-Related Variations: Clinical Analysis and Treatment Response in Fourteen Unrelated Chinese Patients
Fen Liu, Juhua Huang, Qiong Xiao, Shan Huang, Simei Lin, Danna Fang, Jianwei Li, and 1 more authors
Under Review
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Research Articleposted 2025-12-15 07:49:34
Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort
Edna Tackie, Solomon Obiri-Yeboah, Gideon Okyere Mensah, Tamara D. Busch, Bruce Tsri, Daniel Kwesi Sabbah, Christian Opoku Asamoah, and 6 more authors
Under Review
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Case Reportposted 2025-12-12 13:12:26
Acquired RhD positivity loss mediated by promoter hypermethylation is associated with adverse outcome in Myelodysplastic Syndrome: a case report and literature review
Na Wang, Ming Gong, Li Gao, Ying Cai, Linfeng Chen, Guochang Sun, Hongkai Lu, and 1 more authors
Under Review
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Research Articleposted 2025-12-08 11:26:30
Diagnostic Value of Karyotyping, CMA/CNV-Seq, and WES in Fetuses with Thickened Nuchal Translucency: Perinatal and Two-Year Follow-Up Outcomes
Mohan Wang, Yizhen Ji, Yasong Xu, Shiyu Sun, Xiaomei Yang, Li Sun, Qichang Wu
Under Revision
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Research Articleposted 2025-12-02 13:53:58
Identification of diagnostic biomarkers and therapeutic targets for abdominal aortic aneurysm via transcriptome sequencing and integrated bioinformatics
Ruize Kong, Jun Tang, Hongyi Yang, Xing Liu, Yangshuo Jia, Rougang Li, Yongzhi Wang, and 3 more authors
Under Review
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Research Articleposted 2025-11-20 03:34:46
Clinically Actionable Pharmacogenomic Variants for Anticancer Therapy in Nigeria: First Comprehensive Variant Profiling in Underrepresented Nigerian Cohorts
Michael Pius Ukpe, Anastecia Chinasa Ezeanuka
Under Revision
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Case Reportposted 2025-11-05 12:49:42
Alkaptonuria in Two Colombian Patients: Identification of HGD Variants Including a Novel Finding
María Camila León – Sanabria, Ana María Zarante-Bahamón
Under Revision
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Research Articleposted 2025-10-15 09:02:42
Clinical Characteristics and Genetic Analysis of a Chinese Family with Birt–Hogg–Dubé Syndrome Harboring a Novel FLCN Gene Mutation
Shengjing HUANG, CHEN Zefu, Lin ZHANG, DING Xiuxiu, MIU Keji
Under Review
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Research Articleposted 2025-10-09 13:57:05
Crosstalk Mediators Implicated in the Stevens-Johnson Syndrome through Gene Regulatory Network Analysis
Makoto Watanabe, Mayumi Ueta, Hiromi Nishigaki, Katsura Mizushima, Yuji Naito, Shigeru Kinoshita, Chie Sotozono, and 1 more authors
Under Review
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