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283 results on '"Benito, Daniel A."'

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3. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

5. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

6. Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

9. Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

11. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

13. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

14. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

16. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

18. Inferring disease course from differential exon usage in the wide titinopathy spectrum.

19. Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international.

20. Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional.

21. Common data elements for arthrogryposis multiplex congenita: An international framework.

25. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

37. A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.

44. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

49. Assessing the optimality of a three-part pricing policy for an asset-sharing platform in the Philippines.

50. Mathematics as a tool for social awareness and empowerment: A case study from the Philippines.

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