Detalhe da pesquisa
1.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323470
2.
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
Am J Med Genet A
; 185(6): 1712-1720, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675273
3.
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.
Int J Mol Sci
; 21(22)2020 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33203071
4.
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
Br J Haematol
; 185(5): 994-998, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460677
5.
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
6.
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
7.
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Neurol Genet
; 7(1): e540, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33542949
8.
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Mol Diagn Ther
; 24(5): 571-577, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32772316