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.
164
days
Clinical Application of Long‐Read Sequencing for FMR1 Gene Mutation Detection in Populations From Shandong, China
Authors
Yan Li; Fei Hou; Shan Shan; Yingying Peng; Hua JinShow moreShow less
Affiliations
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 ChinaShow moreShow less
607
days
Analysis of Genetic Factors in a Family With Short Stature
Authors
Siqing Zhang; Tian Zuo; Youping Deng; Dongchi Zhao; Lihong LiaoShow moreShow less
Affiliations
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 ChinaShow moreShow less
133
days
Genomic Profiling of Anophthalmia/Microphthalmia‐Associated CNVs Reveals Complex Genotype–Phenotype Correlations and Incomplete Penetrance
Authors
Dong Wu; Mengting Zhang; Qian Zhang; Fengyang Wang; Qiaofang Hou; Hongyan Liu; Shixiu Liao; Hai XiaoShow moreShow less
Affiliations
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 ChinaShow moreShow less
270
days
Novel Clinical and Neurophysiological Insights in Neonatal‐Onset 3‐Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations
Authors
Barbara Belmessieri; Sara Brunetti; Laura Malerba; Paola Martelli; Lucio Giordano; Massimo Plumari; Edoardo Errichiello; Patrizia AccorsiShow moreShow less
Affiliations
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 ItalyShow moreShow less
89
days
Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report
Authors
Evripidis Pityrigkas; Vasiliki Poulidou; Stefania Kalampokini; Eleni Liouta; Georgia Pepe; Martha Spilioti; Vasilios K. KimiskidisShow moreShow less
Affiliations
1. First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki Thessaloniki Greece; 2. Genekor Medical S.A. Athens GreeceShow moreShow less
188
days
The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation
Authors
Xin Li; Xiaotian Wang; Xin Liu; Shuping Wang; Wentao YangShow moreShow less
Affiliations
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 ChinaShow moreShow less
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