Detalhe da pesquisa
1.
Congenital hypothyroidism in Northern Ireland: 40 years' experience of national screening programme.
Clin Endocrinol (Oxf)
; 99(4): 409-416, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37278153
2.
Fourteen-year-old girl with complicated hypothyroidism.
Arch Dis Child Educ Pract Ed
; 109(2): 95-96, 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38302252
3.
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.
Clin Endocrinol (Oxf)
; 89(6): 813-823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086211
4.
Mortality in type 1 diabetes diagnosed in childhood in Northern Ireland during 1989-2012: A population-based cohort study.
Pediatr Diabetes
; 19(1): 166-170, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28548453
5.
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
J Med Genet
; 54(4): 260-268, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884935
6.
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
Hum Mutat
; 38(1): 78-85, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27650164
7.
Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus.
Front Endocrinol (Lausanne)
; 14: 1231043, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38027197
8.
Clinical and metabolic effects of gluten free diet in children with type 1 diabetes and coeliac disease.
Pediatr Diabetes
; 12(4 Pt 1): 322-5, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21615651
9.
The need for preoperative α-adrenergic blockade for ganglioneuroma excision.
Paediatr Anaesth
; 24(3): 347-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24372801
10.
Resolution of Consumptive Hypothyroidism Secondary to Infantile Hepatic Hemangiomatosis with a Combination of Propranolol and Levothyroxine
J Clin Res Pediatr Endocrinol
; 10(3): 294-298, 2018 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29537380
11.
Thermal dysregulation in Prader-Willi syndrome: a potentially fatal complication in adolescence, not just in infancy.
BMJ Case Rep
; 20162016 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27358096
12.
Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.
J Clin Endocrinol Metab
; 99(4): 1122-31, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24423289
13.
Clinical characteristics and management of cranial diabetes insipidus in infants.
J Pediatr Endocrinol Metab
; 26(11-12): 1041-6, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23751384