Detalhe da pesquisa
1.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876365
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.
Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms.
BJU Int
; 124(5): 876-882, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776193
4.
Late surgical correction of hypospadias increases the risk of complications: a series of 501 consecutive patients.
BJU Int
; 119(6): 942-947, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28083998
5.
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Eur J Med Genet
; 66(5): 104733, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36842471
6.
Adult height improved over decades in patients with X-linked hypophosphatemia: a cohort study.
Eur J Endocrinol
; 189(4): 469-475, 2023 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831782
7.
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
8.
A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
Front Endocrinol (Lausanne)
; 13: 1080649, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890856
9.
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.
Front Pediatr
; 10: 926986, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36090548
10.
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
11.
Should We Really Screen for Genital Variants Before Birth?
Eur Urol
; 76(2): e39-e40, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31080124
12.
Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome
J Clin Res Pediatr Endocrinol
; 11(2): 218-219, 2019 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30362323
13.
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
Eur J Hum Genet
; 20(5): 580-3, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22258531