Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Isabelle Delon

Spinal Muscular Atrophy Diagnosis and Carrier Screening From Genome Sequencing Data

Genetics in Medicine
MedicineGenetics
2020English

Related publications

Carrier Screening for Spinal Muscular Atrophy

Genetics in Medicine
MedicineGenetics
2008English

Molecular Diagnosis of Spinal and Bulbar Muscular Atrophy in Slovakia

Bratislava Medical Journal
2016English

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

Genetics in Medicine
MedicineGenetics
2013English

Spinal Muscular Atrophy Type 1

Pediatric Critical Care Medicine
Child HealthCritical CarePediatricsPerinatologyIntensive Care Medicine
2012English

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

European Journal of Human Genetics
Genetics
2017English

Autonomic Dysfunction in Spinal Muscular Atrophy

Turkiye Klinikleri Pediatri
Child HealthPediatricsPerinatology
2019English

Perspectives and Diagnostic Considerations in Spinal Muscular Atrophy

Genetics in Medicine
MedicineGenetics
2010English

Current and Future Treatments of Spinal Muscular Atrophy

Developmental Medicine and Child Neurology
Child HealthDevelopmental NeurosciencePediatricsPerinatologyNeurology
2019English

Section 7: Spinal Muscular Atrophy and Home Ventilation

Canadian Journal of Respiratory, Critical Care, and Sleep Medicine
2018English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy