Detalhe da pesquisa
1.
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
BMC Med
; 22(1): 158, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616269
2.
Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing.
Hum Brain Mapp
; 44(11): 4321-4336, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37209313
3.
Combining neuroanatomical features to support diagnosis of fetal alcohol spectrum disorders.
Dev Med Child Neurol
; 65(4): 551-562, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137006
4.
Neurological outcome in WDR62 primary microcephaly.
Dev Med Child Neurol
; 64(4): 509-517, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35726608
5.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
J Med Genet
; 57(6): 389-399, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015000
6.
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Genet Med
; 22(6): 1061-1068, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32099069
7.
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Ann Neurol
; 85(3): 385-395, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635937
8.
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Dev Med Child Neurol
; 62(4): 528-530, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31489614
9.
Association of Matched Sibling Donor Hematopoietic Stem Cell Transplantation With Transcranial Doppler Velocities in Children With Sickle Cell Anemia.
JAMA
; 321(3): 266-276, 2019 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30667500
10.
Autosomal recessive primary microcephaly due to ASPM mutations: An update.
Hum Mutat
; 39(3): 319-332, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29243349
11.
Covid-19: Possible trigger of SLC13A3 reversible leukoencephalopathy relapse?
Mol Genet Metab
; 136(2): 83-84, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35527102
12.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
J Inherit Metab Dis
; 40(3): 415-422, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255778
13.
High-resolution heavily T2-weighted magnetic resonance imaging for evaluation of the pituitary stalk in children with ectopic neurohypophysis.
Pediatr Radiol
; 47(5): 599-605, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255689
14.
Apparent diffusion coefficient measurements of the fetal brain during the third trimester of pregnancy: how reliable are they in clinical practice?
Prenat Diagn
; 34(4): 357-66, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375489
15.
Extracranial carotid arteriopathy in stroke-free children with sickle cell anemia: detection by submandibular Doppler sonography.
Pediatr Radiol
; 44(5): 587-96, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24595876
16.
PACS2 pathogenic variant associated with malformation of cortical development and epilepsy.
Epileptic Disord
; 26(2): 215-218, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031819
17.
Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?
Prenat Diagn
; 33(3): 273-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23355017
18.
Spectral-based thickness profiling of the corpus callosum enhances anomaly detection in fetal alcohol spectrum disorders.
Front Neurosci
; 17: 1289013, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38027471
19.
Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation.
Front Neurosci
; 17: 1188367, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37360177
20.
Imaging of parotid anomalies in infants and children.
Insights Imaging
; 13(1): 27, 2022 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35201515