28 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. Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.
9. Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes
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 theRFC1gene
11. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
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. 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.
17. Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
18. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
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. A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
22. Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
23. Prioritization of exome variants through an automatic system using HPO terms
24. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
25. SOD1 mutations in adult‐onset distal spinal muscular atrophy
26. First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
27. Evaluación del perfil inmunitario postrasplante autólogo de progenitores hematopoyéticos, en pacientes con mieloma múltiple en remisión completa de larga duración
28. Enfermedad de Pompe del adulto: análisis de 13 pacientes
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