170 results on '"Brain, Caroline"'
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2. Children are at a high risk of hypocalcaemia and hypoparathyroidism after total thyroidectomy
3. Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations
4. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study
5. Prenatal Hormones and Postnatal Socialization by Parents as Determinants of Male-Typical Toy Play in Girls with Congenital Adrenal Hyperplasia
6. 49 Evaluation of a new multidisciplinary clinic for the endocrine assessment of patients with duchenne muscular dystrophy
7. A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD)
8. Gonadotrophin independent puberty (GIPP) with unusually high oestradiol level in an infant with mccune albright syndrome (MAS)
9. Contiguous gene deletion of TBX5 and TBX3: report of another case
10. Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre
11. Variability of response to early puberty induction demonstrated by transverse uterine diameter measurement and a novel method of 3D breast imaging
12. Prenatal hormones and childhood sex segregation: Playmate and play style preferences in girls with congenital adrenal hyperplasia
13. Holistic management of DSD
14. Pseudohypoparathyroidism type 1A and 1B: presentation, phenotypes and phenotype-genotype associations
15. The management of adrenal cell carcinoma in the United Kingdom at a single centre: a 25 year experience
16. Treatment outcome with a selective RET tyrosine kinase inhibitor selpercatinib in children with multiple endocrine neoplasia type 2 and advanced medullary thyroid carcinoma
17. Outcomes of surgery and treatment with selective RET TK inhibitor Selpercatinib in children with MEN2 and advanced MTC.
18. Children are at a high risk of hypocalcaemia and hypoparathyroidism after total thyroidectomy
19. Thyroid Surgery in Children: Clinical Outcomes
20. Mutational Analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) Gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3)
21. Increased aggression and activity level in 3- to 11-year-old girls with congenital adrenal hyperplasia (CAH)
22. Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
23. Late Recovery of Parathyroid Function after Total Thyroidectomy in Children and Adults: Is There a Difference?
24. Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria
25. A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism
26. Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism
27. Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations
28. Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
29. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.
30. Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing
31. Is the Thyrotropin-Releasing Hormone Test Necessary in the Diagnosis of Central Hypothyroidism in Children
32. Regarding the Consensus Statement on 21-Hydroxylase Deficiency from the Lawson Wilkins Pediatric Endocrine Society and The European Society for Paediatric Endocrinology
33. Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome
34. Proopiomelanocortin Products and Human Early-Onset Obesitya
35. Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing
36. Siblings with multinodular goiter and autoimmune thyroiditis
37. Testicular–Epididymal Dissociation: Vas and Vessels May “Lead up the Garden Path”
38. Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria.
39. A 10 year experience of the management of severe hypocalcaemia associated with thymus transplantation in a United Kingdom tertiary centre
40. A case of persistent hypercalcaemia, following accidental denosumab administration
41. Cover Image, Volume 176A, Number 4, April 2018
42. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
43. Idiosyncratic Reactions To Carbamazepine Mimicking Viral Infection In Children
44. Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing
45. Atypical femoral fractures in 2 children treated with bisphosphonates
46. A rare cause of rickets
47. 5-alpha reductase deficiency: insights into the diagnosis and management of a rare condition
48. A case of rare type of Rickets with unidentified genetic aetiology
49. Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant
50. Natural history and genotype‐phenotype correlations in 72 individuals with <italic>SATB2</italic>‐associated syndrome.
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