Raquel Yahyaoui

13PUBLICATIONS
62CO-AUTHORS
Neurology and neuromuscular diseasesImmunogenetics (incl. genetic immunology)Gene expression (incl. microarray and other genome-wide approaches)Medical genetics (excl. cancer genetics)Medical biochemistry - lipids
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Publications (13)

|Jun 25, 2026
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

|Jun 25, 2026
Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025.

|Jan 26, 2026
Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling.

Alejandro Soriano-Sexto, Obdulia Sánchez-Lijarcio, Leonardo Beccari

|Apr 12, 2025
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Elena Martín-Hernández, Marcello Bellusci, Patricia Pérez-Mohand

|Jan 08, 2025
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.

Javier de Las Heras, Carolina Almohalla, Javier Blasco-Alonso

|Dec 27, 2024
Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.

Sara El Janahi, Mounir Filali, Zakia Boudar

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Frequent Collaborators

5 joint publications

Belén Pérez

4 joint publications

Javier Blasco-Alonso

4 joint publications

Maria-Luz Couce

3 joint publications

Paula Sánchez-Pintos