Detalhe da pesquisa
1.
Characterising approaches to steroid therapy in paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2.
J Paediatr Child Health
; 59(7): 890-894, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37114744
2.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genet Med
; 24(2): 384-397, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906446
3.
The SARS-CoV-2 pandemic is associated with increased severity of presentation of childhood onset type 1 diabetes mellitus: A multi-centre study of the first COVID-19 wave.
Diabet Med
; 38(9): e14640, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34245598
4.
A realist synthesis of multicentre comparative audit implementation: exploring what works and in which healthcare contexts.
BMJ Open Qual
; 13(1)2024 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38448042
5.
Identification of Leptomeningeal Medulloblastoma with Contrast-Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis.
J Paediatr Child Health
; 54(8): 929-930, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30133899
6.
Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
Front Endocrinol (Lausanne)
; 14: 1227164, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37800145
7.
An integrated single-cell analysis of human adrenal cortex development.
JCI Insight
; 8(14)2023 Jul 24.
Artigo
Inglês
| MEDLINE | ID: mdl-37440461
8.
Premature ovarian insufficiency.
Best Pract Res Clin Obstet Gynaecol
; 81: 98-110, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-34924261
9.
Management of a Girl With Delayed Puberty and Elevated Gonadotropins.
J Endocr Soc
; 6(9): bvac108, 2022 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35935072
10.
Mosaic PRKACA duplication causing a novel and distinct phenotype of early-onset Cushing's syndrome and acral cutaneous mucinosis.
Eur J Endocrinol
; 187(6): K55-K61, 2022 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36691942
11.
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 107(1): e254-e263, 2022 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34402903
12.
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
Eur J Endocrinol
; 186(4): 417-427, 2022 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35089870
13.
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.
JCI Insight
; 7(5)2022 03 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35138268
14.
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.
Front Pediatr
; 8: 619041, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33381483