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Clinica Chimica Acta,
2024
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A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease—Results from Six Years of Genetic Newborn Screening
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2024
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New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study
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2022
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International Journal of Neonatal Screening,
2022
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SMA carrier testing using Real-time PCR as a potential preconception screening tool
Egyptian Journal of Medical Human Genetics,
2022
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Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
International Journal of Neonatal Screening,
2021
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Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs
International Journal of Neonatal Screening,
2021
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Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
International Journal of Neonatal Screening,
2020
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[9]
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Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
International Journal of Neonatal Screening,
2020
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High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR
European Journal of Human Genetics,
2019
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Spinal muscular dystrophy – a revisit of the diagnosis and treatment modalities
International Journal of Neuroscience,
2019
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Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients
Brain and Development,
2017
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