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160 results on '"Espinosa, Juan F."'

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1. Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity

2. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

4. TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

5. Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy

8. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center

10. Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review

12. Clinical and Genetic Analysis of Patients With TK2 Deficiency.

16. Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy

18. Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

19. Two siblings with uncombable hair syndrome: A new pathogenic variant.

22. A simple method for measuring long-range [super 1]H-[super 13]C coupling constants in organic molecules

24. Conformational selection of glycomimetics at enzyme catalytic sites: experimental demonstration of the binding of distinct high-energy distorted conformations of C-, S-, and O-glycosides by E. coli beta-galactosidases

25. Nem política, nem sociedade: Questionando a justificativa de políticas públicas pró-empreendedorismo no Chile

30. Optimization of diffusion-filtered NMR experiments for selective suppression of residual nondeuterated solvent and water signals from [H.sup.1] NMR spectra of organic compounds

34. NMR-based quantification of beta-sheet populations in aqueous solution through use of reference peptides for the folded and unfolded states

43. O1-06-02: The design and synthesis of an efficacious BACE inhibitor

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