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
138
天
Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights
作者
R. Sahithi Rathod; Geeta Kolar; Suseela Vavilala; Saritha Redishetty; Smita Pawar; Prathibha Reddy; Aditi Shah; Gayatri Nerakh展开收起
作者单位
1. Department of Genetics Fernandez Hospital Hyderabad Telangana India; 2. Department of Fetal Medicine Fernandez Hospital Hyderabad Telangana India展开收起
36
天
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
作者
Angelo Condell; Elaine Zhang; Tim Sikora; Sean Massey; Nicole J. Van Bergen; Min Wang; Cas Simons; Katrina M. Bell; Daniella H. Hock; David A. Stroud; David Francis; Wendy A. Gold; Martin B. Delatycki; John Christodoulou; Simranpreet Kaur展开收起
作者单位
1. Brain and Mitochondrial Research Group Murdoch Children's Research Institute Melbourne Victoria Australia; 2. Canberra Clinical Genomics The Australian National University, Canberra Health Services Canberra Australian Capital Territory Australia; 3. Murdoch Children's Research Institute, Royal Children's Hospital Melbourne Victoria Australia; 4. Department of Paediatrics University of Melbourne Melbourne Victoria Australia; 5. Centre for Population Genomics Garvan Institute of Medical Research and UNSW Sydney Sydney New South Wales Australia; 6. Bio21 Molecular Science and Biotechnology Institute University of Melbourne Melbourne Victoria Australia; 7. Victorian Clinical Genetics Service Royal Children's Hospital Melbourne Victoria Australia; 8. School of Medical Sciences and Discipline of Child and Adolescent Health, Faculty of Medicine and Health The University of Sydney New South Wales Australia; 9. Molecular Neurobiology Research Laboratory, Kids Research The Children's Hospital at Westmead, and The Children's Medical Research Institute New South Wales Australia; 10. Kids Neuroscience Centre, Kids Research The Children's Hospital at Westmead New South Wales Australia展开收起
255
天
Non‐Coding c.* 6C >T Variant in RBM8A Associated With Thrombocytopenia‐Absent Radius ( TAR ) Syndrome in Three Indian Patients
作者
Nitika Langeh; Reddipalli Sharath; Mohammed Tahir Ansari; Jayanth Kumar Palanichamy; Neerja Gupta展开收起
作者单位
1. Department of Pediatrics, Division of Genetics All India Institute of Medical Sciences (AIIMS) New Delhi India; 2. Department of Biochemistry AIIMS New Delhi India; 3. Department of Orthopedics AIIMS New Delhi India展开收起
80
天
Phenotypic Characterization of Five Children With PACS1 ‐ NDD : Longitudinal Insights Into Development, Behavior, and Brain
作者
Fiona Journal; Nada Kojovic; Kenza Latrèche; Stefania Solazzo; Marie Schaer展开收起
作者单位
1. Department of Psychiatry, Faculty of Medicine University of Geneva Geneva Switzerland; 2. Faculty of Psychology and Science of Education (FAPSE) University of Geneva Geneva Switzerland; 3. Fondation Pôle Autisme Geneva Switzerland展开收起
38
天
Diagnostic Yield and Clinical Impact of Comprehensive WES / WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy
作者
Katrine M. Johannesen; Karen Grønskov; Line Kessel; Sarah Linea von Holstein; Lisbeth Birk Møller; Mette Kjøbæk Gundestrup Andersen; Marianne Søndergaard Khinchi; Steffen Hamann; Marianne Wegener; Mette Bertelsen展开收起
作者单位
1. Department of Genetics Copenhagen University Hospital ‐ Rigshospitalet Copenhagen Denmark; 2. Department of Ophthalmology Copenhagen University Hospital ‐ Rigshospitalet Glostrup Denmark; 3. Department of Clinical Medicine University of Copenhagen Copenhagen Denmark; 4. Department of Child Neurology Danish Epilepsy Centre Dianalund Denmark; 5. Neuro‐Ophthalmology Department Rothschild Foundation Hospital Paris France展开收起
32
天
Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure—Implications for Mitochondrial Genetic Testing in Nephrology: A Response Letter
作者
Sarah Hammond; Dervla M. Connaughton展开收起
作者单位
1. Division of Nephrology, Department of Medicine London Health Sciences Centre London Ontario Canada; 2. Department of Biochemistry, Schulich School of Medicine and Dentistry University of Western Ontario London Ontario Canada展开收起
Expert Matching · Case Demo
把投稿要求,转成可验证的期刊方案
说清专业、时限和作者背景,CrushSCI 结合真实审稿样本,给出拟题方向、期刊初筛与周期判断。
