医学
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12 篇有效样本 · 按发表日期由新到旧排列
审稿天数=录用日期-收稿日期;保留 PDF/DOI/网页源链接
A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin‐1/ β ‐Spectrin Interaction in Hereditary Spherocytosis
作者Linlong Xu; Gao Jingwen; Zhu Wenting; Lu Nina; Ding Xiaoxiao; Zhao Lei; Siyun Zhou; 蔡子豪 Cai Zihao; Zhong Zhengyang; Zhu Bo; Chen Sai; Yanrong Guo; Chen Jianlin; Jie Chen; Ding Xiaofei; Guang Chen
作者单位1. Taizhou Central Hospital; 2. Taizhou University
Diagnostic Yield of Genome Sequencing in an Iranian Exome‐Negative Autosomal‐Recessive Intellectual Disability Cohort
作者Ebrahim Shokouhian; Masoumeh Moslemi; Masoumeh Goleyjani Moghadam; Negar Molaei; Parnian Alagha; Azadeh Reshadmanesh; Sanaz Arzhangi; Fatemeh Ghodratpour; Mert Celik; Ilayda Selcen Kadioglu; Masoud Edizadeh; Mohammad R. Akbari; Kimia Kahrizi; Hossein Najmabadi
作者单位1. University of Social Welfare and Rehabilitation Sciences; 2. Intergen (Turkey); 3. Women's College Hospital
Decoding the Sphingolipid Landscape of Clear Cell Renal Cell Carcinoma: A Single‐Cell‐Guided Prognostic Model Built With 101 Machine Learning
作者Jinbang Huang; Shunsheng Wang; Yaojun Zhou; Hui Zhang; Yanyuan Zhang; Shi Huang; Haiwei Su; Hongling Zhu; Yuhan Lin; Gang Deng
作者单位1. Sun Yat-sen University; 2. The Seventh Affiliated Hospital of Sun Yat-sen University; 3. Southwest Medical University
A Propionate Metabolism‐Based Gene Signature Reveals Immunogenomic and Transcriptomic Determinants of Prognosis in Glioblastoma Through Multiomics Integration
作者Mengtong Li; Jiayi Liu; Zichen Liu; Xia Liu; Peng Lun
作者单位1. Qingdao University; 2. Affiliated Hospital of Qingdao University
Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population
作者Jennifer Ling; Mustansir Pindwarawala; Cheryl Y. Gregory-Evans; Mathew Kirby; Kevin Gregory-Evans
作者单位1. University of British Columbia Hospital; 2. University of British Columbia; 3. BC Children's Hospital
A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights
作者Ting Zhu; Jiamin Shi; Jia Li; Tingmin Zhou; Xinru Fu; Fengzhen Xu; Chuangjie Gu; DanPing Wang; DanPing Wang; Ruiting Wu; Li Liu; Jingling Shen; Dan Wang; Dan Wang
作者单位1. Wenzhou Medical University; 2. First Affiliated Hospital of Wenzhou Medical University; 3. Wenzhou Central Hospital; 4. Shaoxing People's Hospital; 5. Zhejiang Taizhou Hospital; 6. Taizhou University; 7. Wenzhou University
Panomics Integration via Machine Learning Prioritizes TAF1D as a Therapeutic Vulnerability in Lung Adenocarcinoma
作者Lan Ding; Qingmei Xu; Dongdong Liu; Jingyu Wu; Xufan Cai; Feiqi Xu; Shuhan Ma; Haitao Wang; Yanyan Shi
作者单位1. Hangzhou Medical College; 2. 117th Hospital of People's Liberation Army; 3. Zhejiang Cancer Hospital; 4. Hangzhou Normal University
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