Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.
Genes (Basel)
; 14(1)2022 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672823
3.
Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
Mol Cytogenet
; 11: 34, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29930709
4.
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
PLoS One
; 13(10): e0205298, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30289920
5.
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
PLoS One
; 12(1): e0169935, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28072833