23 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. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
4. Hereditary cerebral small vessel disease: Assessment of a HTRA1 variant using protein stability predictors and 3D modelling
5. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center
6. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1splicing variants in 2 novel individuals
7. Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
8. Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes
9. Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.
10. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
11. 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
12. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families
13. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
14. A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness
15. Adult‐onset nemaline myopathy due to a novel homozygous variant in theTNNT1gene
16. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
17. 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.
18. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
19. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene
20. Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.
21. Enfermedad de Pompe del adulto: análisis de 13 pacientes
22. Adult Pompe disease: Analysis of 13 patients.
23. Comment on: Soft cerebellar signs unveil RARS2-related epilepsy.
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