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International Journal of Neonatal Screening|February 23, 2024
Newborn Screening for Krabbe Disease: Status Quo and Recommendations for ImprovementsDietrich Matern, Khaja Basheeruddin, Tracy L Klug, et al.
International Journal of Neonatal Screening|March 27, 2024
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of MetabolismToby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, et al.
International Journal of Neonatal Screening|September 23, 2024
Charting the Ethical Frontier in Newborn Screening Research: Insights from the NBSTRN ELSI Researcher Needs SurveyYekaterina Unnikumaran, Mei Lietsch, Amy Brower
International Journal of Neonatal Screening|September 23, 2024
Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1Barbra Charina V Cavan, Leniza G de Castro-Hamoy, Conchita G Abarquez, et al.
International Journal of Neonatal Screening|July 25, 2024
Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New ZealandNatasha Heather, Ronda F Greaves, Kaustuv Bhattacharya, et al.
International Journal of Neonatal Screening|July 25, 2024
One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of CroatiaDarija Šimić, Ana Šarić, Ana Škaričić, et al.
International Journal of Neonatal Screening|July 25, 2024
Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic CounselingSusan Howell, Shanlee M Davis, Billie Carstens, et al.
International Journal of Neonatal Screening|March 26, 2025
International Survey on Phenylketonuria Newborn ScreeningDomen Trampuž, Peter C J I Schielen, Rolf H Zetterström, et al.
International Journal of Neonatal Screening|July 25, 2024
Systematic Review of Newborn Screening Programmes for Spinal Muscular AtrophyKaty Cooper, Gamze Nalbant, Anthea Sutton, et al.
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