Detalhe da pesquisa
1.
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Hum Mol Genet
; 32(6): 917-933, 2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190515
2.
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
Am J Med Genet A
; 194(5): e63542, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38234180
3.
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.
PLoS Genet
; 17(2): e1009307, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33524012
4.
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
PLoS Comput Biol
; 16(5): e1007871, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32421718
5.
Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.
Sci Rep
; 8(1): 3875, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497113