6 results on '"Arteche-López, Ana"'
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2. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
3. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
4. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
5. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
6. Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling.
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