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Publications by Aaron L. Halpern

Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data

Genetics in Medicine

English

Whole-Genome Shotgun Assembly and Comparison of Human Genome Assemblies

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Related publications

Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine

English

Molecular Diagnosis of Spinal and Bulbar Muscular Atrophy in Slovakia

Bratislava Medical Journal

English

An Ashkenazi Jewish SMN1 Haplotype Specific to Duplication Alleles Improves Pan-Ethnic Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine

English

Spinal Muscular Atrophy Type 1

Pediatric Critical Care Medicine

Intensive Care Medicine

English

Non-Invasive Prenatal Diagnosis of Spinal Muscular Atrophy by Relative Haplotype Dosage

European Journal of Human Genetics

English

Autonomic Dysfunction in Spinal Muscular Atrophy

Turkiye Klinikleri Pediatri

English

Perspectives and Diagnostic Considerations in Spinal Muscular Atrophy

Genetics in Medicine

English

Current and Future Treatments of Spinal Muscular Atrophy

Developmental Medicine and Child Neurology

Developmental Neuroscience

English

Section 7: Spinal Muscular Atrophy and Home Ventilation

Canadian Journal of Respiratory, Critical Care, and Sleep Medicine

English