6 results on '"Arteche-López, Ana"'
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2. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
3. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1splicing variants in 2 novel individuals
4. Enfermedad de Pompe del adulto: análisis de 13 pacientes
5. Adult Pompe disease: Analysis of 13 patients.
6. Comment on: Soft cerebellar signs unveil RARS2-related epilepsy.
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