Detalhe da pesquisa
1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
2.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
3.
Ipsilesional volume loss of basal ganglia and thalamus is associated with poor hand function after ischemic perinatal stroke.
BMC Neurol
; 22(1): 23, 2022 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022000
4.
Impact of obesity on vascular calcification in patients with chronic kidney disease.
Clin Nephrol
; 97(1): 10-17, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402786
5.
Variations in CT Utilization, Protocols, and Radiation Doses in COVID-19 Pneumonia: Results from 28 Countries in the IAEA Study.
Radiology
; 298(3): E141-E151, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170104
6.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
7.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
J Inherit Metab Dis
; 42(3): 553-564, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746764
8.
CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.
Neuropediatrics
; 47(6): 361-367, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27599155
9.
Resting-State Functional Connectivity and Cognitive Impairment in Children with Perinatal Stroke.
Neural Plast
; 2016: 2306406, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074160
10.
Vascular syndrome predicts the development and course of epilepsy after perinatal stroke.
Epileptic Disord
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38727601
11.
The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke.
Front Neurol
; 14: 1252472, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37840930
12.
High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction.
J Child Neurol
; 38(6-7): 373-388, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37427422
13.
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Mol Genet Genomic Med
; 11(6): e2157, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860143
14.
Language lateralization and outcome in perinatal stroke patients with different vascular types.
Brain Lang
; 228: 105108, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35334446
15.
Maternal Pyelonephritis as a Potential Cause of Perinatal Periventricular Venous Infarction in Term-Born Children.
J Child Neurol
; 37(8-9): 677-688, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821576
16.
Predictive value of clinical and radiological findings in inflicted traumatic brain injury.
Acta Paediatr
; 99(9): 1329-36, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20377537
17.
The Cost-Effectiveness of Abdominal Aortic Aneurysm Screening in Estonia.
Value Health Reg Issues
; 22: 1-6, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31677427
18.
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.
Eur J Med Genet
; 63(2): 103660, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048081
19.
Low cerebral blood flow velocity and head circumference in infants with severe hypoxic ischemic encephalopathy and poor outcome.
Acta Paediatr
; 98(3): 459-65, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19016665
20.
Changes in cerebral and visceral blood flow velocities in asphyxiated term neonates with hypoxic-ischemic encephalopathy.
J Ultrasound Med
; 28(11): 1471-80, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19854961