Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38387458
2.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Am J Med Genet A
; : e63559, 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421105
3.
Men with an FMR1 premutation and their health education needs.
J Genet Couns
; 30(4): 1156-1167, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33788978