Detalhe da pesquisa
1.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386308
2.
Dynamic assessment of scapholunate ligament status by real-time magnetic resonance imaging: an exploratory clinical study.
Skeletal Radiol
; 53(4): 791-800, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37819279
3.
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Am J Hum Genet
; 106(2): 246-255, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004447
4.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
5.
Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
J Inherit Metab Dis
; 46(6): 1206-1208, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37718464
6.
Real-time MRI: a new tool of radiologic imaging in small children.
Eur J Pediatr
; 182(8): 3405-3417, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249681
7.
First experience with real-time magnetic resonance imaging-based investigation of respiratory influence on cardiac function in pediatric congenital heart disease patients with chronic right ventricular volume overload.
Pediatr Radiol
; 53(13): 2608-2621, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794175
8.
Comparison of cardiac volumetry using real-time MRI during free-breathing with standard cine MRI during breath-hold in children.
Pediatr Radiol
; 52(8): 1462-1475, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353211
9.
Spirometry-based reconstruction of real-time cardiac MRI: Motion control and quantification of heart-lung interactions.
Magn Reson Med
; 86(5): 2692-2702, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34272760
10.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33173220
11.
Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.
Brain
; 143(1): 94-111, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855247
12.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
FASEB J
; 33(10): 11507-11527, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31345061
13.
Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.
J Inherit Metab Dis
; 43(5): 981-993, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32118306
14.
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Am J Hum Genet
; 99(4): 894-902, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616477
15.
Age-related apparent diffusion coefficients of lumbar vertebrae in healthy children at 1.5 T.
Pediatr Radiol
; 48(7): 1008-1012, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29651606
16.
Gadolinium Brain Deposition after Macrocyclic Gadolinium Administration: A Pediatric Case-Control Study.
Radiology
; 285(1): 223-230, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640695
17.
MATR3 haploinsufficiency and early-onset neurodegeneration.
Brain
; 144(9): e72, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34173818
18.
RANBP2 Mutation Mimicking Viral Encephalitis.
Neuropediatrics
; 53(4): 301-302, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381605
19.
Screening for non-alcoholic fatty liver disease in children and adolescents with type 1 diabetes mellitus: a cross-sectional analysis.
Eur J Pediatr
; 176(4): 529-536, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213828
20.
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum.
Metab Brain Dis
; 31(3): 717-21, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26780086