生物学
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19 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
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
作者单位1. Department of Pediatrics, Government Medical College Srinagar Srinagar India
Glycerol‐3‐Phosphate Dehydrogenase 1 ( GPD1 ) Deficiency: A Transient Disease or a Great Masquerader?
作者Samannay Das; Tamoghna Biswas
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
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
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
Associations Between Sensory Processing and Irritability in Prader–Willi Syndrome: Beyond Genetic Subtypes and Clinical Backgrounds
作者Erina Nakane; Hiroyuki Ogata; Sohei Saima; Chuichi Kondo; Masaki Seki; Yuji Oto; Hiroshi Ihara
作者单位1. Department of Psychiatry Dokkyo Medical University Saitama Medical Center Koshigaya Saitama Japan; 2. Department of Psychiatry Ikezawa Shinkeika Hospital Hanyuu Saitama Japan; 3. Department of Psychiatry Okute Hospital Mizunami Gifu Japan; 4. Department of Pediatrics Dokkyo Medical University Saitama Medical Center Koshigaya Saitama Japan
Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study
作者Thomas Gehin; Malika Foy; Robert Carlier; Valentin Renault; Karelle Benistan
作者单位1. AP‐HP, DMU Smart Imaging, Raymond Poincaré University Hospital Garches France; 2. AP‐HP, Ehlers‐Danlos Syndrome Referral Center, Raymond Poincaré University Hospital Garches France; 3. UR20261, PHARMAcoligo, Paris‐Saclay University, UVSQ Versailles France
Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐ CoA Dehydrogenase Deficiency ( LCHADD ) Explained by Three Allelic Products From Two Pathogenic Variants
作者Yutaka Furuta; Lynette C. Rives; T. Andrew Burrow; Thomas A. Cassini; Rory J. Tinker; Amy K. Robertson; Kimberly M. Ezell; Rizwan Hamid; Joy D. Cogan; John A. Phillips
作者单位1. Division of Medical Genetics and Genomic Medicine, Department of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA; 2. Section of Genetics and Metabolism, Department of Pediatrics University of Arkansas for Medical Sciences, College of Medicine Little Rock Arkansas USA; 3. Department of Medical Genetics and Genomics Icahn School of Medicine at Mount Sinai New York New York USA
Resolution of Refractory Multifocal Atrial Tachycardia in C ostello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic
作者Vanina Taliercio; Annabelle Wilcox; Stacey Cole; Josue Flores Daboub; José E. Morales Moreno; Kasey G. Andrews; S. Yukiko Asaki; Thomas A. Pilcher; Martin Tristani‐Firouzi; Mary C. Niu; David Viskochil; Benjamin Hammond
作者单位1. Department of Pediatrics, Division of Medical Genetics University of Utah Salt Lake City Utah USA; 2. Department of Pediatrics, Division of General Pediatrics University of Utah Salt Lake City Utah USA; 3. Department of Pediatrics, Division of Cardiology University of Utah Salt Lake City Utah USA
Response of an Infant With Presumed Multiple Acyl‐ CoA Dehydrogenase Deficiency ( MADD ) to Ketone Supplementation
作者Yutaka Furuta; Kaitlyn N. Bloom; Jerry Vockley; Angela R. Grochowsky; Neena S. Agrawal; Ellen W. Strickler; Natalie N. Owen; Erica T. Gray; B. Lakshitha A. Perera; Eric R. Gamazon; Lynette C. Rives; Hua‐Chang Chen; Qi Liu; Rizwan Hamid; Joy D. Cogan; John A. Phillips; Thomas A. Cassini; Bryce A. Schuler
作者单位1. Department of Pediatrics, Division of Medical Genetics and Genomic Medicine Vanderbilt University Medical Center Nashville Tennessee USA; 2. Department of Pediatrics, Division of Genetic and Genomic Medicine University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USA; 3. Department of Medicine, Division of Genetic Medicine and Clinical Pharmacology Vanderbilt University Medical Center Nashville Tennessee USA; 4. Department of Biostatistics Vanderbilt University Medical Center Nashville Tennessee USA
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