Detalhe da pesquisa
1.
Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay.
Prenat Diagn
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38666792
2.
ZDHHC15 as a candidate gene for autism spectrum disorder.
Am J Med Genet A
; 191(4): 941-947, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565021
3.
GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.
Am J Med Genet A
; 185(2): 476-485, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33269555
4.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
5.
The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.
JCEM Case Rep
; 2(1): luad153, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170043
6.
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Neurology
; 91(21): e1988-e1998, 2018 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30381368
7.
L-arginine levels in blood as a marker of nitric oxide-mediated brain damage in acute stroke: a clinical and experimental study.
J Cereb Blood Flow Metab
; 23(8): 978-84, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12902842