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International Journal of Neonatal Screening|May 23, 2023
The Editor's Choice for Issue 2, Volume 8Peter C J I SchielenInternational Journal of Neonatal Screening|February 22, 2023
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20"Simon A Jones, David Cheillan, Anupam Chakrapani, et al.International Journal of Neonatal Screening|March 28, 2023
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase DeficiencyJayakrishna Tippabathani, Venu Seenappa, Alagupandian Murugan, et al.International Journal of Neonatal Screening|March 28, 2023
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid HarmGiancarlo la Marca, Rachel S Carling, Stuart J Moat, et al.International Journal of Neonatal Screening|August 27, 2021
Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn ScreeningAlexander Asamoah, Sainan Wei, Kelly E Jackson, et al.International Journal of Neonatal Screening|August 27, 2021
Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in JapanNobuyuki Shimozawa, Shigeo Takashima, Hiroki Kawai, et al.International Journal of Neonatal Screening|August 27, 2021
Advances in the Diagnosis and Treatment of Krabbe DiseaseDavid A Wenger, Paola Luzi, Mohammad A RafiInternational Journal of Neonatal Screening|August 27, 2021
Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy NumberBinod Kumar, Samantha Barton, Jolanta Kordowska, et al.International Journal of Neonatal Screening|August 23, 2022
Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot ExperienceChiara Bianchimani, Daniela Dolce, Claudia Centrone, et al.International Journal of Neonatal Screening|August 22, 2025
Refining CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) Diagnosis: Impact of CFTR2 Variant ClassificationsMacKenzie Wyatt, Alexandra Quinn, Lincoln Shade, et al.Pageof 65