Detalhe da pesquisa
1.
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Neurogenetics
; 19(2): 93-103, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511999
2.
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.
Clin Genet
; 93(6): 1172-1178, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460436
3.
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
Clin Genet
; 91(4): 576-588, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761913
4.
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
5.
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Int J Pediatr Otorhinolaryngol
; 171: 111606, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336020
6.
[Epidemiological study of very preterm infants at Rouen University Hospital: changes in mortality, morbidity, and care over 11 years]. / Évolution de la mortalité, de la morbidité et de la prise en charge des grands prématurés dans un centre de niveau III : comparaison des années 2000, 2005 et 2010.
Arch Pediatr
; 20(2): 156-63, 2013 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-23266166
7.
[A case of neonatal hypotonia]. / Une hypotonie néonatale.
Arch Pediatr
; 24(7): 647-649, 2017 Jul.
Artigo
em Francês
| MEDLINE | ID: mdl-28583782
8.
[Isolated vitreous amyloidosis]. / Amylose vitréenne inaugurale.
J Fr Ophtalmol
; 40(1): e7-e9, 2017 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-28065461
9.
[Zellweger syndrome]. / Syndrome de Zellweger.
Arch Pediatr
; 24(7): 689-691, 2017 Jul.
Artigo
em Francês
| MEDLINE | ID: mdl-28576584