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International Journal of Neonatal Screening|March 26, 2025
Non-Uptake of Newborn Screening in Planned Homebirth Is Associated with Preventive Health Practices for Infants: A Retrospective Case-Control StudyChen Stein-Zamir, Hanna Shoob, Sandra Katan, et al.
International Journal of Neonatal Screening|March 26, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn ScreenHayley A Ron, Owen Kane, Rose Guo, et al.
International Journal of Neonatal Screening|March 26, 2025
Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, ChinaXudong Wang, Xingxiu Lu, Faming Zheng, et al.
International Journal of Neonatal Screening|November 25, 2024
DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant IdentifiedTsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, et al.
International Journal of Neonatal Screening|September 23, 2024
A Qualitative Study on Engaged Families' Experiences with Long-Term Follow-Up Care in the Colorado/Wyoming Newborn Screening SystemStacey Quesada, Lauren Barringer, Marci K Sontag, et al.
International Journal of Neonatal Screening|September 23, 2024
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, et al.
International Journal of Neonatal Screening|September 23, 2024
Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening LaboratoriesStuart J Moat, James R Bonham, Christine Cavanagh, et al.
International Journal of Neonatal Screening|February 21, 2025
Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia TraitLisa M Shook, Deidra Haygood, Charles T Quinn
International Journal of Neonatal Screening|February 21, 2025
Seventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood SpotsPeter C J I Schielen, Dianne Webster, J Gerard Loeber, et al.
International Journal of Neonatal Screening|February 21, 2025
Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective StudyBeatriz De Felipe, Carmen Delgado-Pecellin, Mercedes Lopez-Lobato, et al.
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