Paper Review Records
All Paper Review Records
25 valid samples · Newest publication first
Review days = acceptance date − received date. PDF, DOI, and publisher-page sources are retained.
201
days
Rare Biallelic CTU2 Variants in an Individual With CAKUT : Clinical Characterization and Minigene Splicing Analysis
Authors
Qian Liu; Xueqin Cheng; Bixia Zheng; Chunli Wang; Wei Zhou; Aihua ZhangShow moreShow less
Affiliations
1. Department of Nephrology Children's Hospital of Nanjing Medical University Nanjing Jiangsu China; 2. Nanjing Key Laboratory of Pediatrics Children's Hospital of Nanjing Medical University Nanjing Jiangsu ChinaShow moreShow less
313
days
A Synonymous DLG4 Variant (c. 771G >A) Causes Exon 9 Skipping via Paternal Germline Mosaicism in DLG4 ‐Related Synaptopathy
Authors
Jing Chen; Qinfei Zhao; Xinyue Zhang; Nan Wu; Xuxiang Xi; Yin Zeng; Sa Wu; Kun Yuan; Zezhang Liu; Xiangsheng Wu; Shaoying ZengShow moreShow less
Affiliations
1. Department of Laboratory Medicine First Affiliated Hospital of Gannan Medical University Ganzhou Jiangxi China; 2. Nanchang University Nanchang China; 3. The First School of Clinical Medicine Gannan Medical University Ganzhou Jiangxi China; 4. Department of Obstetrics and Gynecology First Affiliated Hospital of Gannan Medical University Ganzhou Jiangxi China; 5. BGI Genomics Shenzhen Guangdong China; 6. Clin Lab BGI Genomics Wuhan Hubei ChinaShow moreShow less
111
days
Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025
Authors
Xiujuan Cao; Wei Zhou; Yong Wang; Lvxian Wu; Jianhua MaoShow moreShow less
Affiliations
1. Department of Nephrology, The Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center Hangzhou Zhejiang China; 2. Department of Pediatrics Jinhua Municipal Central Hospital Jinhua China; 3. The Key Laboratory for Screening and Diagnosis of Maternal and Child Genetic Disease of Health Commission of Jiangxi Province Jiujiang Jiangxi China; 4. Department of Internal Medicine Yanbian University Hospital Yanji Jilin ChinaShow moreShow less
156
days
Identification of the MYH6 c. 804G >C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family
Authors
Songlin Zhang; Xiaohua Tang; Leixiang Yang; Yang Wang; Yong Cui; Xiaopan ChenShow moreShow less
Affiliations
1. Laboratory Medicine Center, Department of Genetic and Genomic Medicine Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College Hangzhou Zhejiang China; 2. Key Laboratory of Birth Defects Wenzhou Central Hospital Wenzhou Zhejiang China; 3. Heart Center, Department of Cardiovascular Surgery Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College Hangzhou Zhejiang ChinaShow moreShow less
124
days
COQ2‐Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review
Authors
Yuqi Yue; Fei Zhao; Qiuxia ChenShow moreShow less
Affiliations
1. Department of Nephrology Children's Hospital of Nanjing Medical University Nanjing ChinaShow moreShow less
349
days
Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease
Authors
Benjamin M. Helm; Leah Wetherill; Benjamin J. Landis; Stephanie M. WareShow moreShow less
Affiliations
1. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA; 2. Department of Pediatrics Indiana University School of Medicine Indianapolis Indiana USAShow moreShow less
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