Paper Review Records
全部论文审稿周期
25 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
164
天
Clinical Application of Long‐Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China
作者
Yan Li; Fei Hou; Shan Shan; Yingying Peng; Hua Jin展开收起
作者单位
1. Department of Prenatal Diagnosis Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital) Jinan China; 2. Medical Research Center Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University (Jinan Maternity and Child Care Hospital) Jinan China展开收起
607
天
Analysis of Genetic Factors in a Family With Short Stature
作者
Siqing Zhang; Tian Zuo; Youping Deng; Dongchi Zhao; Lihong Liao展开收起
作者单位
1. Department of Pediatrics Zhongnan Hospital of Wuhan University Wuhan Hubei China; 2. Hubei Provincial Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases Wuhan China展开收起
133
天
Genomic Profiling of Anophthalmia/Microphthalmia‐Associated CNVs Reveals Complex Genotype–Phenotype Correlations and Incomplete Penetrance
作者
Dong Wu; Mengting Zhang; Qian Zhang; Fengyang Wang; Qiaofang Hou; Hongyan Liu; Shixiu Liao; Hai Xiao展开收起
作者单位
1. Medical Genetics Institute of Henan Provincial People's Hospital Zhengzhou China; 2. NHC Key Laboratory of Birth Defects Prevention, Institute of Reproductive Health, Henan Academy of Innovations in Medical Science Zhengzhou China; 3. Department of Medical Genetics The Affiliated People's Hospital, Zhengzhou University Zhengzhou China展开收起
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展开收起
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展开收起
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展开收起
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展开收起
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展开收起
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展开收起
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