Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415748
3.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clin Genet
; 99(3): 407-417, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277917
4.
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.
Eur J Med Genet
; 64(10): 104290, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274527
5.
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
Eur J Med Genet
; 63(12): 104064, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32998064