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3. A second update on mapping the human genetic architecture of COVID-19

4. Novel genes and sex differences in COVID-19 severity

5. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

10. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

11. sporadic or autosomal recessive osteogenesis imperfecta

12. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

15. changes in Schimke immuno-osseous dysplasia?

16. The c.859G > C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

17. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

19. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

20. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

23. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

25. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

30. Novel risk loci for COVID-19 hospitalization among admixed American populations.

31. A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).

32. European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

33. Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

34. Novel genes and sex differences in COVID-19 severity.

35. Optimising care and follow-up of adults with achondroplasia.

36. Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.

37. The first European consensus on principles of management for achondroplasia.

38. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

39. Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

40. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

41. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication.

42. Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

43. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

44. Schimke immunoosseous dysplasia: suggestions of genetic diversity.

45. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

46. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

47. SRY gene expression in the ovotestes of XX true hermaphrodites.

48. Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

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