Detalhe da pesquisa
1.
Author Correction: Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes.
Nat Immunol
; 19(9): 1035, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29880894
2.
Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes.
Nat Immunol
; 18(12): 1321-1331, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28991267
3.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Am J Hum Genet
; 108(2): 337-345, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33434492
4.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 106(6): 859-871, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470375
5.
Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.
Pediatr Diabetes
; 23(6): 675-692, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35657808
6.
Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.
Pediatr Diabetes
; 23(1): 45-54, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837310
7.
Management of severe inaugural diabetic ketoacidosis in paediatric intensive care: retrospective comparison of two protocols.
Eur J Pediatr
; 181(4): 1497-1506, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34993625
8.
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Clin Endocrinol (Oxf)
; 94(2): 277-289, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098107
9.
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
J Inherit Metab Dis
; 44(2): 415-425, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929747
10.
Low-dose IL-2 in children with recently diagnosed type 1 diabetes: a Phase I/II randomised, double-blind, placebo-controlled, dose-finding study.
Diabetologia
; 63(9): 1808-1821, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32607749
11.
Lopinavir-Ritonavir Impairs Adrenal Function in Infants.
Clin Infect Dis
; 71(4): 1030-1039, 2020 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633158
12.
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Genet Med
; 22(1): 44-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31281181
13.
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Pediatr Diabetes
; 21(6): 932-941, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418263
14.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Hum Mutat
; 40(11): 2033-2043, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231873
15.
Mutations in BOREALIN cause thyroid dysgenesis.
Hum Mol Genet
; 26(3): 599-610, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28025328
16.
Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.
Pediatr Diabetes
; 20(3): 246-254, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684309
17.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Am J Hum Genet
; 107(3): 580, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888510
18.
Prediction of Neonatal Hyperthyroidism.
J Pediatr
; 197: 249-254.e1, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29605392
19.
Surgery is not superior to dilation for the management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome: a multicenter comparative observational study in 131 patients.
Am J Obstet Gynecol
; 219(3): 281.e1-281.e9, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30036500
20.
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro-intestinal syndrome.
Pediatr Diabetes
; 19(3): 381-387, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940958