Detalhe da pesquisa
1.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
2.
Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.
Hum Genet
; 132(4): 461-71, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23329067
3.
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
Eur J Hum Genet
; 18(5): 539-43, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19953122