Detalhe da pesquisa
1.
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Mol Psychiatry
; 26(5): 1706-1718, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597717
2.
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.
BMC Med Genet
; 19(1): 197, 2018 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30424743
3.
Identifying single-cell molecular programs by stochastic profiling.
Nat Methods
; 7(4): 311-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20228812
4.
X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant.
Bone
; 172: 116763, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37059315
5.
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder.
Am J Psychiatry
; 179(11): 853-861, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36000218