Found: 25
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A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
- Published in:
- Child Neurology Open, 2023, p. 1, doi. 10.1177/2329048X231176673
- By:
- Publication type:
- Article
Kynurenic acid and kynurenine aminotransferase are potential biomarkers of early neurological improvement after thrombolytic therapy: A pilot study.
- Published in:
- Advances in Clinical & Experimental Medicine, 2021, v. 30, n. 12, p. 1225, doi. 10.17219/acem/141646
- By:
- Publication type:
- Article
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
- Published in:
- 2017
- By:
- Publication type:
- journal article
De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/2501741
- By:
- Publication type:
- Article
Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 627, doi. 10.1177/0883073813494476
- By:
- Publication type:
- Article
Spectrum of Neurodevelopmental Disabilities: A Cohort Study in Hungary.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 3, p. 344, doi. 10.1177/0883073814532543
- By:
- Publication type:
- Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
- By:
- Publication type:
- Article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
- Published in:
- 2014
- By:
- Publication type:
- case study
Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Birth prevalence of neural tube defects: a population-based study in South-Eastern Hungary.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 4, p. 621, doi. 10.1007/s00381-012-1951-1
- By:
- Publication type:
- Article
Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 12, p. 1534, doi. 10.1177/0883073811436326
- By:
- Publication type:
- Article
Holoprosencephaly in Hungary: Birth Prevalence and Clinical Spectrum.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 8, p. 1029, doi. 10.1177/0883073811399095
- By:
- Publication type:
- Article
Development of visual contour integration in children with migraine without aura.
- Published in:
- Cephalalgia, 2011, v. 31, n. 9, p. 1048, doi. 10.1177/0333102411410611
- By:
- Publication type:
- Article
Epidemiology and Clinical Spectrum of Schizencephaly in South-Eastern Hungary.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 11, p. 1335, doi. 10.1177/0883073810364854
- By:
- Publication type:
- Article
The use of covered stents for the endovascular treatment of extracranial internal carotid artery stenosis: a prospective study with a 5-year follow-up.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Bilateral Operculum Syndrome in Childhood.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 5, p. 544
- By:
- Publication type:
- Article
X-Linked Myotubular Myopathy: Report of a Case With Novel Mutation.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 4, p. 447
- By:
- Publication type:
- Article
Hippocampal Dysgenesis Associated With Temporal Lobe Hypoplasia and Arachnoid Cyst of the Middle Cranial Fossa.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 11, p. 926, doi. 10.1177/08830738050200111401
- By:
- Publication type:
- Article
Electroencephalography, Doppler Vascular Scanning, and Single Photon Emission Computed Tomography in a Child With Hydranencephaly and Intractable Seizures.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 5, p. 446, doi. 10.1177/08830738050200051201
- By:
- Publication type:
- Article
Distinguishing the four genetic causes of jouberts syndrome–related disorders.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 513
- By:
- Publication type:
- Article
Extreme Microcephaly With Agyria-Pachygyria, Partial Agenesis of the Corpus Callosum, and Pontocerebellar Dysplasia.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 2, p. 170, doi. 10.1177/08830738050200021301
- By:
- Publication type:
- Article
Temporal Lobe Epilepsy in Children: Etiology in a Cohort with New-onset Seizures.
- Published in:
- Epilepsia (Series 4), 2002, v. 43, n. 1, p. 75, doi. 10.1046/j.1528-1157.2002.24201.x
- By:
- Publication type:
- Article
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency).
- Published in:
- 2000
- By:
- Publication type:
- journal article
Adrenoleukodystrophy: Cortical Hypoperfusion Demonstrated With 99mTc-HMPAO SPECT.
- Published in:
- Journal of Child Neurology, 1994, v. 9, n. 3, p. 284, doi. 10.1177/088307389400900312
- By:
- Publication type:
- Article