Detalhe da pesquisa
1.
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
J Med Genet
; 61(6): 503-519, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471765
2.
Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
Eur J Pediatr
; 183(1): 103-111, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831301
3.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Hum Genet
; 142(7): 949-964, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198333
4.
Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome.
Eur J Pediatr
; 182(6): 2607-2614, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947243
5.
Serum hepcidin concentrations in relation to iron status in children with type 1 diabetes.
Pediatr Hematol Oncol
; 38(2): 108-123, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33026897
6.
The influence of food order on postprandial glucose levels in children with type 1 diabetes.
Pediatr Diabetes
; 19(4): 809-815, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527759
7.
Iron status and its association with HbA1c levels in Dutch children with diabetes mellitus type 1.
Eur J Pediatr
; 177(4): 603-610, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396628
8.
Utility of adult-based ultrasound malignancy risk stratifications in pediatric thyroid nodules.
Pediatr Radiol
; 48(1): 74-84, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28983667
9.
Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data.
Horm Res Paediatr
; : 1-14, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38232712
10.
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.
J Clin Med
; 12(18)2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37762921
11.
Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
J Endocr Soc
; 6(4): bvac019, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35233476
12.
Objective Home-Monitoring of Physical Activity, Cardiovascular Parameters, and Sleep in Pediatric Obesity.
Digit Biomark
; 6(1): 19-29, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36148249
13.
Predicting Malignancy in Pediatric Thyroid Nodules: Early Experience With Machine Learning for Clinical Decision Support.
J Clin Endocrinol Metab
; 106(12): e5236-e5246, 2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34160618
14.
Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries.
J Clin Endocrinol Metab
; 106(12): 3621-3633, 2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34318892
15.
An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature.
J Clin Endocrinol Metab
; 105(7)2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282051
16.
The effect of growth hormone treatment on metabolic and cardiovascular risk factors is similar in preterm and term short, small for gestational age children.
Clin Endocrinol (Oxf)
; 71(1): 65-73, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19094073
17.
Does preterm birth influence the response to growth hormone treatment in short, small for gestational age children?
Clin Endocrinol (Oxf)
; 70(4): 582-7, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19067725
18.
Reduced levels of GH during GnRH analogue treatment in pubertal short girls born small for gestational age (SGA).
Clin Endocrinol (Oxf)
; 70(6): 914-9, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19178519
19.
Overnight levels of luteinizing hormone, follicle-stimulating hormone and growth hormone before and during gonadotropin-releasing hormone analogue treatment in short boys born small for gestational age.
Horm Res
; 71(5): 260-7, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19339790
20.
Overnight luteinizing and follicle stimulating hormone profiles during GnRHa treatment in short girls born small for gestational age.
J Pediatr Endocrinol Metab
; 22(2): 161-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19449673