Detalhe da pesquisa
1.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
2.
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
Am J Med Genet A
; 173(1): 62-71, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27615324
3.
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Cell Stem Cell
; 24(2): 257-270.e8, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595499