Detalhe da pesquisa
1.
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Clin Genet
; 94(1): 141-152, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574747
2.
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.
Clin Genet
; 89(5): 630-5, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26582393
3.
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
J Med Genet
; 49(2): 104-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180640
4.
What can we learn from old microdeletion syndromes using array-CGH screening?
Clin Genet
; 82(1): 41-7, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21722100
5.
Fraser syndrome without cryptophthalmos: Two cases.
Eur J Med Genet
; 63(4): 103839, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923588
6.
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
J Med Genet
; 40(3): 188-91, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12624137
7.
[Isolated bilateral dysplasia of the hip in children]. / Les dysplasies bilatérales isolées de la hanche chez l'enfant.
Arch Pediatr
; 2(12): 1137-43, 1995 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-8547992
8.
[Triple hyperautofluorescent retinal ring. Pathognomonic appearance of c.166G>A NR2E3-related inherited retinal degeneration]. / Triple anneau d'hyperautofluorescence rétinienne. Aspect pathognomonique d'une dystrophie rétinienne liée à la mutation c.166G>A dans le gène NR2E3.
J Fr Ophtalmol
; 42(3): 332-333, 2019 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-30850196
9.
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
Mol Syndromol
; 1(2): 67-74, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21045959
10.
Prenatal diagnosis of metatropic dwarfism.
Prenat Diagn
; 15(8): 753-6, 1995 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-7479594