14 results on '"Arteche-López, Ana"'
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2. Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling
3. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1splicing variants in 2 novel individuals
4. Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
5. Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes
6. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
7. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in theRFC1gene
8. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
9. A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness
10. New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
11. A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
12. Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
13. Prioritization of exome variants through an automatic system using HPO terms
14. Evaluación del perfil inmunitario postrasplante autólogo de progenitores hematopoyéticos, en pacientes con mieloma múltiple en remisión completa de larga duración
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