Detalhe da pesquisa
1.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319078
2.
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
J Med Genet
; 59(7): 669-677, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321324
3.
Natural History of Adult Patients with GM2 Gangliosidosis.
Ann Neurol
; 87(4): 609-617, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31995250
4.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet
; 54(12): 843-851, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28954837
5.
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Eur J Hum Genet
; 26(7): 996-1006, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29695756