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María-Rosario Domingo

3

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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

2017 Orphanet Journal of Rare Diseases
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MECP2 Gene Study in a Large Cohort: Testing of 240 Female Patients and 861 Healthy Controls (519 Females and 342 Males)

2013 The Journal of Molecular Diagnostics
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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

2012 BMC Medical Genetics
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