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 phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
Am J Med Genet A
; 188(5): 1497-1514, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138025
3.
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
Neurogenetics
; 22(3): 195-206, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132911
4.
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Sci Rep
; 13(1): 12984, 2023 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37563198
5.
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Res Sq
; 2023 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034680
6.
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Eur J Hum Genet
; 29(8): 1216-1225, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33907317
7.
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Eur J Hum Genet
; 29(1): 51-60, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32788663