Detalhe da pesquisa
1.
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
J Hum Genet
; 68(8): 543-550, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37072624
2.
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Hum Mutat
; 43(10): 1361-1367, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753050
3.
Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
J Hum Genet
; 68(8): 577, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37237142
4.
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Neurogenetics
; 17(1): 51-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26445863
5.
Failure of deactivation in bipolar disorder during performance of an fMRI adapted version of the Stroop task.
J Affect Disord
; 329: 307-314, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36863465
6.
Effects of perinatal HIV-infection on the cortical thickness and subcortical gray matter volumes in young adulthood.
Medicine (Baltimore)
; 100(15): e25403, 2021 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847637
7.
Apert syndrome: Cranial procedures and brain malformations in a series of patients.
Surg Neurol Int
; 11: 361, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33194294
8.
Prevalence and Clinical Manifestations of Congenital Cytomegalovirus Infection in a Screening Program in Madrid (PICCSA Study).
Pediatr Infect Dis J
; 39(11): 1050-1056, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773658
9.
LAMA2-related congenital muscular dystrophy complicated by West syndrome.
Eur J Paediatr Neurol
; 19(2): 243-7, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25500573
10.
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
Orphanet J Rare Dis
; 9: 217, 2014 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25539952
11.
Steroids for familial acute necrotizing encephalopathy: A future investment?
Clin Neurol Neurosurg
; 174: 134-136, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30241006