关注
Ulvi Vaher
Ulvi Vaher
senior physician in pediatric neurology and pediatric EEG
在 kliinikum.ee 的电子邮件经过验证
标题
引用次数
引用次数
年份
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ...
Nature genetics 45 (9), 1067-1072, 2013
5262013
Gene panel testing in epileptic encephalopathies and familial epilepsies
RS Møller, LHG Larsen, KM Johannesen, I Talvik, T Talvik, U Vaher, ...
Molecular syndromology 7 (4), 210-219, 2016
1342016
Mutations in GABRB3 From febrile seizures to epileptic encephalopathies
RS Møller, TV Wuttke, I Helbig, C Marini, KM Johannesen, EH Brilstra, ...
Neurology 88 (5), 483-492, 2017
1192017
Cerebral blood‐flow velocities in predicting outcome of asphyxiated newborn infants
P Ilves, M Lintrop, T Metsvaht, U Vaher, T Talvik
Acta paediatrica 93 (4), 523-528, 2004
1142004
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
A Brunklaus, T Brünger, T Feng, C Fons, A Lehikoinen, E Panagiotakaki, ...
Brain 145 (11), 3816-3831, 2022
842022
De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and …
U Vaher, M Nõukas, T Nikopensius, M Kals, T Annilo, M Nelis, K Õunap, ...
Journal of child neurology 29 (12), NP202-NP206, 2014
832014
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy
K Reinson, E Õiglane‐Shlik, I Talvik, U Vaher, A Õunapuu, M Ennok, ...
American journal of medical genetics Part A 170 (8), 2173-2176, 2016
792016
A novel c. 2T> C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability
K Õunap, H Puusepp-Benazzouz, M Peters, U Vaher, R Rein, A Proos, ...
European journal of medical genetics 55 (3), 178-184, 2012
482012
Epilepsy after perinatal stroke with different vascular subtypes
R Laugesaar, U Vaher, S Lõo, A Kolk, M Männamaa, I Talvik, ...
Epilepsia Open 3 (2), 193-202, 2018
412018
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature
I Talvik, RS Møller, M Vaher, U Vaher, LHG Larsen, HA Dahl, P Ilves, ...
Child neurology open 2 (2), 2329048X15583717, 2015
402015
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
KM Johannesen, S Iqbal, M Guazzi, NA Mohammadi, E Pérez-Palma, ...
Genetics in Medicine 24 (3), 681-693, 2022
182022
CDKL5 gene-related epileptic encephalopathy in Estonia: four cases, one novel mutation causing severe phenotype in a boy, and overview of the literature
S Lilles, I Talvik, K Noormets, U Vaher, K Õunap, T Reimand, V Sander, ...
Neuropediatrics 47 (06), 361-367, 2016
162016
Monosomy 1p36–A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities
E Õiglane-Shlik, S Puusepp, I Talvik, U Vaher, R Rein, P Tammur, ...
European Journal of Paediatric Neurology 18 (3), 338-346, 2014
152014
Incidence of childhood epilepsy in Estonia
K Veri, I Talvik, U Vaher, A Napa, P Ilves, O Uibo, E Õiglane-Shlik, ...
Journal of Child Neurology 33 (9), 587-592, 2018
132018
Newly-diagnosed pediatric epilepsy is associated with elevated autoantibodies to glutamic acid decarboxylase but not cardiolipin
K Veri, O Uibo, T Talvik, I Talvik, K Metsküla, A Napa, U Vaher, ...
Epilepsy research 105 (1-2), 86-91, 2013
132013
Language lateralization and outcome in perinatal stroke patients with different vascular types
N Ilves, M Männamaa, R Laugesaar, N Ilves, D Loorits, U Vaher, P Kool, ...
Brain and language 228, 105108, 2022
102022
Four siblings with Hallervorden–Spatz disease
U Vaher, A Napa, A Nurmiste, A Piirsoo, H Sibul, T Talvik
Brain and Development 23 (4), 236-239, 2001
92001
The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke
U Vaher, N Ilves, N Ilves, R Laugesaar, M Männamaa, D Loorits, P Kool, ...
Frontiers in Neurology 14, 1252472, 2023
32023
Eesti ravijuhend „Epilepsia käsitlus fertiilses eas naistel ja rasedatel “
A Rakitin, U Vaher, A Kirss, M Saar, K Kallavus
Eesti Arst, 2022
12022
General ability and specific cognitive functions are lower in children with epilepsy after perinatal ischemic stroke
U Vaher, M Männamaa, R Laugesaar, N Ilves, N Ilves, D Loorits, P Kool, ...
Frontiers in Stroke 3, 1371093, 2024
2024
系统目前无法执行此操作,请稍后再试。
文章 1–20