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95 results on '"Tiosano D"'

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1. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development

2. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

3. Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

10. Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

11. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.

17. Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

19. Linear growth of children with X-linked hypophosphatemia treated with burosumab: a real-life observational study.

20. The effect of etanercept therapy on adrenal steroid metabolism in juvenile idiopathic arthritis: a steroid metabolomics approach.

21. An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia.

22. PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.

23. Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature.

24. Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features.

25. Lessons Learned from Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Patients on Vitamin D Functions.

26. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

27. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

28. In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.

29. Primary Ovarian Insufficiency Nationwide Incidence Rate and Etiology Among Israeli Adolescents.

30. Mitochondrial Dysfunction in Primary Ovarian Insufficiency.

31. Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome.

32. Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia.

33. Reproductive history of patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

34. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

35. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.

36. Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.

37. Is one diagnosis the whole story? patients with double diagnoses.

38. Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes.

39. Global Consensus Recommendations on Prevention and Management of Nutritional Rickets.

40. Evo-devo of Child Growth: The Role of Weaning in the Transition from Infancy to Childhood.

41. Duodenal Expression of 25 Hydroxyvitamin D3-1α-hydroxylase Is Higher in Adolescents Than in Children and Adults.

42. Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

43. The beneficial effect of growth hormone treatment on islet mass in streptozotocin-treated mice.

44. TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).

45. Evidence of ERalpha and ERbeta selectivity and partial estrogen agonism in traditional Chinese medicine.

46. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

47. A mutated vitamin D receptor in hereditary vitamin D-resistant rickets prevents induction of bronchial hyperreactivity and inflammation.

48. Update on vitamin D during childhood.

49. Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23.

50. The role of vitamin D receptor in innate and adaptive immunity: a study in hereditary vitamin D-resistant rickets patients.

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