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Paper Review Records

全部论文审稿周期

24 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

74 天

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

作者
Jeremy J. Pomeroy; Jesse Richards; Brooke R. Sweeney; Seema Kumar; Katie E. Queen; Joshua Zaritsky; Carl H. Cramer; Elias I. Traboulsi; Brittni A. Scruggs; Erica E. Davis; Ekaterina Keifer; Emma McGibbon; Timothy Ogden; Bendert De Graaf; Tonia Hymers; Elizabeth Forsythe; Philip Beales展开收起
作者单位
1. Marshfield Clinic Research Institute Marshfield Wisconsin USA; 2. Department of Internal Medicine University of Oklahoma School of Community Medicine Tulsa Oklahoma USA; 3. Children's Mercy Kansas City, Center for Children's Healthy Lifestyles & Nutrition Kansas City Missouri USA; 4. Division of Pediatric Endocrinology, Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota USA; 5. Our Lady of the Lake Children's Health Weight and Nutrition Center Baton Rouge Louisiana USA; 6. Department of Nephrology Phoenix Children's Hospital Phoenix Arizona USA; 7. Division of Pediatric Nephrology and Hypertension, Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota USA; 8. Cole Eye Institute, Cleveland Clinic Cleveland Ohio USA; 9. Department of Ophthalmology and Department of Pediatrics Mayo Clinic Rochester Minnesota USA; 10. Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA; 11. Department of Pediatrics, Cell and Developmental Biology Fienberg School of Medicine, Northwestern University Chicago Illinois USA; 12. Wolfson Neurodisability Service, Great Ormand Street Hospital NHS Foundation Trust London UK; 13. Bardet Biedl Syndrome Foundation Unionville Pennsylvania USA; 14. Bardet‐Biedl Stichting Kampen the Netherlands; 15. Bardet‐Biedl Syndrome UK Essex UK; 16. Clinical Genetics Department Guys and St. Thomas' Hospitals London UK; 17. National Bardet‐Biedl Syndrome Clinics, Great Ormond Street Hospital London UK; 18. Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health London UK展开收起
PDF源文件 DOI 网页
34 天

Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia

作者
Nicholas A. Borja; Mustafa Tekin展开收起
作者单位
1. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine Miami Florida USA; 2. John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA展开收起
PDF源文件 DOI 网页
272 天

Expanding the Genetic and Clinical Spectrum of GZF1 ‐Related Phenotype: A Specific Ocular and Skeletal Disorder Distinguishable From Larsen Syndrome

作者
Emiy Yokoyama‐Rebollar; Camilo E. Villarroel; Tania Barragán‐Arévalo; Oscar Francisco Chacón‐Camacho; Diana Cristina Orozco‐Ávila; Paula Leal‐Anaya; Victoria del Castillo‐Ruiz; Juan Carlos Zenteno展开收起
作者单位
1. Human Genetics Department National Institute of Pediatrics Mexico City Mexico; 2. Genetics Department Hospital Infantil de México “Federico Gómez” Mexico City Mexico; 3. Department of Genetics Institute of Ophthalmology “Conde de Valenciana” Mexico City Mexico; 4. Laboratorio 5‐Genética, Edificio 4‐A, Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala UNAM Mexico City Mexico; 5. Rare Diseases Diagnostic Unit and Department of Biochemistry, Faculty of Medicine UNAM Mexico City Mexico展开收起
PDF源文件 DOI 网页
3 天

Nuances of Genetic Diagnosis, Variant Interpretation, and Targeted Molecular Testing in Limited‐Resource Settings: Lessons From Inherited Glycerol‐3‐Phosphate Dehydrogenase 1 Deficiency

作者
Ishaq Malik; Aaqib Zaffar Banday展开收起
作者单位
1. Department of Pediatrics, Government Medical College Srinagar Srinagar India展开收起
PDF源文件 DOI 网页
37 天

Glycerol‐3‐Phosphate Dehydrogenase 1 ( GPD1 ) Deficiency: A Transient Disease or a Great Masquerader?

作者
Samannay Das; Tamoghna Biswas展开收起
作者单位
1. Department of Pediatric Gastroenterology Indian Institute of Liver and Digestive Sciences Sonarpur India; 2. Department of Hepatology AIG Hospitals Hyderabad India展开收起
PDF源文件 DOI 网页
249 天

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

作者
Giulia Cinelli; Stefania Della Vecchia; Patrizia Bergonzini; Elisa Caramaschi; Elisabetta Spezia; Claudia Parenti; Simona Filomena Madeo; Laura Lucaccioni; Cavalleri Francesca; Marisa Pugliese; Federico Raviglione; Clara Colonna; Olga Calabrese; Ilaria Stanghellini; Maria Carmen Marongiu; Enrico Biagioni; Anna Rita Ferrari; Roberta Battini; Lorenzo Iughetti展开收起
作者单位
1. Post Graduate School of Pediatrics, Department of Medical and Surgical Sciences of the Mothers, Children and Adults University of Modena and Reggio Emilia Modena Italy; 2. Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA) University of Florence Florence Italy; 3. Neuroscience Department IRCCS Stella Maris Foundation Pisa Italy; 4. Pediatric Unit, Department of Medical and Surgical Sciences of the Mothers, Children and Adults University of Modena and Reggio Emilia Modena Italy; 5. Neurology, Section of Neurophysiology, Department of Biomedical, Metabolic and Neuroscience University of Modena and Reggio Emilia Modena Italy; 6. Department of Neuroradiology University Hospital of Modena Modena Italy; 7. Psychology Unit, Women's and Children's Health Department University Hospital of Modena Modena Italy; 8. Child Neuropsychiatry Unit U.O.N.P.I.A ASST–Rhodense Milan Italy; 9. SSD Medical Genetics, Mother and Child Department University Hospital of Modena Modena Italy; 10. Orthopaedics and Traumatology Unit University Hospital of Modena Modena Italy; 11. Unit of Child Neurology and Psychiatry‐ASL Toscana Nord‐Ovest Pisa Italy; 12. Department of Clinical and Experimental Medicine University of Pisa Pisa Italy展开收起
PDF源文件 DOI 网页

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《融合机器学习与生命周期评价的城市污水处理碳排放预测与优化》

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平均审稿62 天

中位数65 天

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