Detalhe da pesquisa
1.
Effects of advanced carbohydrate counting on glucose control and quality of life in children with type 1 diabetes.
Pediatr Diabetes
; 21(7): 1240-1248, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32644264
2.
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Clin Genet
; 96(4): 309-316, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31237352
3.
Constitutional telomeric association (Y;7) in a patient with a female phenotype.
Am J Med Genet A
; 161A(6): 1436-41, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613342
4.
Hyperglycaemic hyperosmolar state and cerebral thrombophlebitis in paediatrics: A case report.
Endocrinol Diabetes Metab
; 6(2): e389, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36722309
5.
Changes in the clinical management of 5α-reductase type 2 and 17ß-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Endocr Connect
; 12(3)2023 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36606580
6.
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
J Clin Endocrinol Metab
; 108(9): e779-e788, 2023 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36884306
7.
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
Eur J Endocrinol
; 184(2): 347-355, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361469
8.
Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia.
Am J Med Genet A
; 152A(1): 175-80, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20014135
9.
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.
Am J Med Genet A
; 152A(6): 1550-4, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503334
10.
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Front Endocrinol (Lausanne)
; 11: 545339, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33692749
11.
Letter in response to the article on bone and joint infection in the United States: French data.
J Arthroplasty
; 28(6): 1055, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23523488
12.
Estradiol Testing in the Exploration of Early Onset Puberty: Comparison of RIA and Chemiluminescence Immunoassay.
Ann Lab Med
; 43(6): 632-634, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387498
13.
[Knowledge, attitudes and practices of parents on vaccination against polio in Abeche-Tchad]. / Connaissances, attitudes et pratiques des parents face à la vaccination contre la poliomyélite à Abéché-Tchad.
Pan Afr Med J
; 31: 219, 2018.
Artigo
em Francês
| MEDLINE | ID: mdl-31452828
14.
Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Eur J Endocrinol
; 179(3): 181-190, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29973376
15.
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Eur J Hum Genet
; 25(8): 930-934, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28612834
16.
Growth patterns of patients with Noonan syndrome: correlation with age and genotype.
Eur J Endocrinol
; 174(5): 641-50, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26903553
17.
Surgical site infection after primary hip and knee arthroplasty: a cohort study using a hospital database.
Infect Control Hosp Epidemiol
; 36(10): 1198-207, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26154882
18.
Clinical and economic outcomes of infective endocarditis.
Infect Dis (Lond)
; 47(2): 80-7, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25426997
19.
Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis.
Am J Med Genet A
; 149A(4): 788-92, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18478593
20.
Quality assessment of hospital discharge database for routine surveillance of hip and knee arthroplasty-related infections.
Infect Control Hosp Epidemiol
; 35(6): 646-51, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24799640