Detalhe da pesquisa
1.
Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
Neuropediatrics
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38547905
2.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
3.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
4.
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Clin Genet
; 100(1): 14-28, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619735
5.
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
J Neurol
; 271(4): 1937-1946, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38127101