Detalhe da pesquisa
1.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.
Genes Chromosomes Cancer
; 61(12): 740-746, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999193
2.
IDH2 inhibition enhances proteasome inhibitor responsiveness in hematological malignancies.
Blood
; 133(2): 156-167, 2019 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30455381
3.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
HGG Adv
; : 100309, 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38751117
4.
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Eur J Hum Genet
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351292
5.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Eur J Hum Genet
; 31(11): 1228-1236, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879111
6.
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
medRxiv
; 2023 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234782