Detalhe da pesquisa
1.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 338-355, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109419
2.
A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.
Am J Med Genet A
; 188(3): 900-906, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34787370