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AMERICAN JOURNAL OF MEDICAL GENETICS PART A 期刊封面 生物学
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Review Cycle Records

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Wiley SCIE 非OA
2026新锐 3区2025中科院 3区2025 JCR Q3
153.1平均天数
100中位天数
3最短天数
784最长天数
4002025发文量

Paper Review Records

全部论文审稿周期

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

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

作者单位1. Department of Pediatrics, Government Medical College Srinagar Srinagar India

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

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

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

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

PDF源文件 DOI 网页
89 天

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

PDF源文件 DOI 网页
168 天

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

PDF源文件 DOI 网页
51 天

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

PDF源文件 DOI 网页
62 天

Early‐Onset Epileptic Encephalopathy and Neurodevelopmental Regression Associated With ST3GAL5 Deficiency

作者Sabire Gokalp; Elif Guler; Mustafa Kilic

作者单位1. Department of Pediatric Metabolic Disorders Etlik City Hospital, University of Health Science Ankara Türkiye

PDF源文件 DOI 网页
67 天

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

PDF源文件 DOI 网页
88 天

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

PDF源文件 DOI 网页

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样本口径2026 年最近 5 篇有效论文样本

平均审稿96.4 天

中位数77 天

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