Detalhe da pesquisa
1.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(1): 120-145, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528028
2.
Validation of a predictive model for obstructive sleep apnea in people with Down syndrome.
Am J Med Genet A
; 191(2): 518-525, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426646
3.
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
; 110(3): 548, 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868207
4.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
5.
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.
Front Genet
; 14: 1174046, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37424725
6.
Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.
Am J Med Genet A
; 173(7): 1988-1991, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28447379
7.
Young Children With Gender Nonconforming Behaviors and Preferences.
J Dev Behav Pediatr
; 40(1): 60-71, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30247388