Detalhe da pesquisa
1.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Am J Hum Genet
; 99(4): 962-973, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666370
2.
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Am J Med Genet A
; 173(11): 3022-3028, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28941052
3.
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
Hum Genet
; 135(11): 1263-1268, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27481395
4.
Diagnostic approaches to apparent homozygosity.
Genet Med
; 14(10): 877-82, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22595940
5.
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.
Pediatr Neurol
; 126: 65-73, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740135
6.
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.
J Hum Genet
; 56(12): 834-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22011815