Detalhe da pesquisa
1.
De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
Am J Med Genet A
; 191(6): 1607-1613, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36942595
2.
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Genet Med
; 24(11): 2399-2407, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083289
3.
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Am J Med Genet A
; 188(5): 1376-1383, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35128800