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20 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
270
天
Novel Clinical and Neurophysiological Insights in Neonatal‐Onset 3‐Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations
作者Barbara Belmessieri; Sara Brunetti; Laura Malerba; Paola Martelli; Lucio Giordano; Massimo Plumari; Edoardo Errichiello; Patrizia Accorsi
作者单位1. Department of Clinical and Experimental Sciences University of Brescia Brescia Italy; 2. Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia Brescia Italy; 3. Unit of Medical Genetics University of Pavia Pavia Italy; 4. Neurogenetics Research Center IRCCS Mondino Foundation Pavia Italy
89
天
Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report
作者Evripidis Pityrigkas; Vasiliki Poulidou; Stefania Kalampokini; Eleni Liouta; Georgia Pepe; Martha Spilioti; Vasilios K. Kimiskidis
作者单位1. First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki Thessaloniki Greece; 2. Genekor Medical S.A. Athens Greece
188
天
The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation
作者Xin Li; Xiaotian Wang; Xin Liu; Shuping Wang; Wentao Yang
作者单位1. Department of Endocrinology The People's Hospital of Dongying Dongying Shandong China; 2. Department of Emergency The People's Hospital of Dongying Dongying Shandong China
201
天
Rare Biallelic CTU2 Variants in an Individual With CAKUT : Clinical Characterization and Minigene Splicing Analysis
作者Qian Liu; Xueqin Cheng; Bixia Zheng; Chunli Wang; Wei Zhou; Aihua Zhang
作者单位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 China
313
天
A Synonymous DLG4 Variant (c. 771G >A) Causes Exon 9 Skipping via Paternal Germline Mosaicism in DLG4 ‐Related Synaptopathy
作者Jing Chen; Qinfei Zhao; Xinyue Zhang; Nan Wu; Xuxiang Xi; Yin Zeng; Sa Wu; Kun Yuan; Zezhang Liu; Xiangsheng Wu; Shaoying Zeng
作者单位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 China
111
天
Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025
作者Xiujuan Cao; Wei Zhou; Yong Wang; Lvxian Wu; Jianhua Mao
作者单位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 China
156
天
Identification of the MYH6 c. 804G >C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family
作者Songlin Zhang; Xiaohua Tang; Leixiang Yang; Yang Wang; Yong Cui; Xiaopan Chen
作者单位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 China
124
天
349
天
Body Region Dysmorphology Is Predictive of Genetic Diagnoses in Infants With Congenital Heart Disease
作者Benjamin M. Helm; Leah Wetherill; Benjamin J. Landis; Stephanie M. Ware
作者单位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 USA
62
天
Novel DMD Frameshift Variant (p.Leu2017Profs*5) in Spectrin‐Like Repeat 16 Expands the Mutational Spectrum of DMD
作者Yu‐Chin Lin; G. W. Gant Luxton; Hwei‐Jen Lee; Yu‐Yang Lu; Hung‐Chi Yang; Kuo‐Sheng Hung; Ming‐Tsong Lai; Chih‐Fen Hu
作者单位1. Department of Pediatrics, Tri‐Service General Hospital National Defense Medical University Taipei Taiwan; 2. Department of Molecular and Cellular Biology University of California Davis California USA; 3. Department of Biochemistry National Defense Medical University Taipei Taiwan; 4. Department of Medical Laboratory Science and Biotechnology Yuanpei University of Medical Technology Hsinchu Taiwan; 5. Center for Precision Medicine and Genomics, Tri‐Service General Hospital National Defense Medical University Taipei Taiwan; 6. KimForest Enterprise Co., Ltd. New Taipei City Taiwan; 7. Department of Pediatrics, School of Medicine, College of Medicine National Defense Medical University Taipei Taiwan
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样本口径2026 年最近 5 篇有效论文样本
平均审稿96.4 天
中位数77 天