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.
Revising the FOCUS framework through a qualitative study assessing self-reported counseling skills of genetic counselors.
J Genet Couns
; 31(4): 868-886, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132718
3.
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
Am J Med Genet A
; 179(9): 1783-1790, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294511
4.
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.
Am J Med Genet A
; 173(8): 2101-2107, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28504353