Detalhe da pesquisa
1.
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Am J Med Genet A
; 194(3): e63457, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37881147
2.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594
3.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506510
4.
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
5.
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Am J Med Genet A
; 179(4): 639-644, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767363
6.
RASopathies are associated with a distinct personality profile.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 434-446, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659143
7.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Eur J Hum Genet
; 32(2): 190-199, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872275
8.
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.
Dis Model Mech
; 16(3)2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810932
9.
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Front Genet
; 14: 1122985, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152996
10.
The role of three-dimensional printing in coronavirus disease-19 medical management: A French nationwide survey.
Ann 3D Print Med
; 1: 100001, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38620317
11.
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Eur J Hum Genet
; 29(8): 1216-1225, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33907317