Detalhe da pesquisa
1.
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Am J Hum Genet
; 106(5): 623-631, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275884
2.
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Genet Med
; 23(5): 881-887, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473207
3.
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.
Hum Mutat
; 41(3): 591-599, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31821646
4.
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.
Mol Cytogenet
; 15(1): 17, 2022 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35440058
5.
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Mol Genet Metab Rep
; 31: 100859, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782626
6.
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency-Lessons learned.
Mol Genet Metab Rep
; 33: 100942, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36466970