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Intertechnique Agreement in Epilepsy Imaging.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2019, v. 13, n. 4, p. 292, doi. 10.12956/tchd.541114
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- Publication type:
- Article
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 2, p. 130, doi. 10.1159/000534587
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- Publication type:
- Article
Neurologic Involvement in Primary Immunodeficiency Disorders.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 5, p. 320, doi. 10.1177/0883073817754176
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- Publication type:
- Article
Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.
- Published in:
- Pediatrics International, 2003, v. 45, n. 1, p. 16, doi. 10.1046/j.1442-200X.2003.01669.x
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- Publication type:
- Article
Niemann-Pick disease type C in the newborn period: a single-center experience.
- Published in:
- 2017
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- Publication type:
- journal article
Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series.
- Published in:
- Turkish Journal of Neurology / Turk Noroloji Dergisi, 2021, v. 17, n. 3, p. 343, doi. 10.4274/tnd.2021.12979
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- Publication type:
- Article
Childhood Traumas, Attachment and Alexithymia in Adolescents with Psychogenic Nonepileptic Seizure Type of Conversion Disorder.
- Published in:
- Turkish Journal of Psychiatry, 2019, v. 30, n. 2, p. 1, doi. 10.5080/u18398
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- Publication type:
- Article
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
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- Publication type:
- Article
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 1015, doi. 10.1038/ng.683
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- Publication type:
- Article
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
- Published in:
- Nature Genetics, 2010, v. 42, n. 3, p. 245, doi. 10.1038/ng.526
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- Publication type:
- Article
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 1008, doi. 10.1038/ng1419
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- Publication type:
- Article
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Psychiatric evaluation of children with CSWS (continuous spikes and waves during slow sleep) and BRE (benign childhood epilepsy with centrotemporal spikes/rolandic epilepsy) compared to children with absence epilepsy and healthy controls.
- Published in:
- Turkish Journal of Pediatrics, 2007, v. 49, n. 4, p. 397
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- Publication type:
- Article
Recurrent pseudotumoral hemicerebellitis: neuroimaging findings.
- Published in:
- Pediatric Radiology, 2008, v. 38, n. 4, p. 462, doi. 10.1007/s00247-007-0725-5
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- Publication type:
- Article
Surgery for epilepsy in children with dysembryoplastic neuroepithelial tumor: clinical spectrum, seizure outcome, neuroradiology, and pathology.
- Published in:
- Child's Nervous System, 2009, v. 25, n. 4, p. 485, doi. 10.1007/s00381-008-0762-x
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- Publication type:
- Article
Outcome and long term follow-up after corpus callosotomy in childhood onset intractable epilepsy.
- Published in:
- Child's Nervous System, 2006, v. 22, n. 10, p. 1322
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- Publication type:
- Article
Childhood Traumas, Attachment and Alexithymia in Adolescents with Psychogenic Nonepileptic Seizure Type of Conversion Disorder.
- Published in:
- Turk Psikiyatri Dergisi, 2019, v. 30, n. 2, p. 1, doi. 10.5080/u18398
- By:
- Publication type:
- Article
Childhood disabilities: reappraisal in the high-tech era.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 6, p. 483, doi. 10.1111/j.1469-8749.2012.04311.x
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- Publication type:
- Article
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 1, p. 77, doi. 10.1038/sj.ejhg.5200745
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- Publication type:
- Article
D-Bifonksiyonel Protein Eksikliği: Olgu Sunumu.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Medulloblastoma in a Child with the Metabolic Disease L-2-Hydroxyglutaric Aciduria.
- Published in:
- Pediatric Neurosurgery, 2002, v. 37, n. 1, p. 22, doi. 10.1159/000065097
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- Publication type:
- Article
Clinical Profile of Late-Infantile and Juvenile Metachromatic Leukodystrophy: A Retrospective Study.
- Published in:
- Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2022, v. 75, n. 4, p. 544, doi. 10.4274/atfm.galenos.2022.87004
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- Publication type:
- Article
Effect of Alendronate Treatment on the Clinical Picture and Bone Turnover Markers in Chronic Idiopathic Hyperphosphatasia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, n. 2, p. 217, doi. 10.1515/jpem.2000.13.2.217
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- Publication type:
- Article
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 3, p. 810, doi. 10.1093/brain/awn366
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- Publication type:
- Article
Effects of Johnstone pressure splints combined with neurodevelopmental therapy on spasticity and cutaneous sensory inputs in spastic cerebral palsy.
- Published in:
- Developmental Medicine & Child Neurology, 2001, v. 43, n. 5, p. 307, doi. 10.1111/j.1469-8749.2001.tb00210.x
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- Publication type:
- Article
The seizure semiology consistent with frontal lobe symptomatogenic zone in children.
- Published in:
- Turkish Journal of Pediatrics, 2016, v. 58, n. 6, p. 583, doi. 10.24953/turkjped.2016.06.003
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- Publication type:
- Article
Evaluation of central nervous system in patients with glycogen storage disease type 1a.
- Published in:
- Turkish Journal of Pediatrics, 2016, v. 58, n. 1, p. 12, doi. 10.24953/turkjped.2016.01.002
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- Publication type:
- Article
Conventional and advanced MR imaging in infantile Refsum disease.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 3, p. 294
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- Publication type:
- Article
Semiological seizure classification of epileptic seizures in children admitted to video-EEG monitoring unit.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 4, p. 317
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- Publication type:
- Article
Usefulness of long-term video-EEG monitoring in children at a tertiary care center.
- Published in:
- Turkish Journal of Pediatrics, 2014, v. 56, n. 1, p. 591
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- Publication type:
- Article
Treatment of a severe conversion disorder in a 10-year-old boy: a case study and overview.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 413
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- Publication type:
- Article
When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 1, p. 52
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- Publication type:
- Article
Lamotrigine in children with refractory epilepsy.
- Published in:
- Turkish Journal of Pediatrics, 2008, v. 50, n. 6, p. 426
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- Publication type:
- Article
Lamotrigine in children with refractory epilepsy.
- Published in:
- Turkish Journal of Pediatrics, 2008, v. 50, n. 5, p. 426
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- Publication type:
- Article
Osteoid osteoma in a 16-year-old boy presenting with atrophy of the left thigh: diagnostic difficulties.
- Published in:
- Turkish Journal of Pediatrics, 2008, v. 50, n. 4, p. 373
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- Publication type:
- Article
Eğitim Felsefesi Çerçevesinde Lider-Yönetici Dikotomisinde Demokrasi Kültürünün İncelenmesi.
- Published in:
- Journal of Social Research & Behavioral Sciences / Sosyal Araştırmalar ve Davranış Bilimleri Dergisi, 2023, v. 9, n. 19, p. 389, doi. 10.52096/jsrbs.9.19.29
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- Publication type:
- Article
Eğitim Felsefesi Çerçevesinde Demokrasi Kültürünün Eğitim Ortamlarındaki Yapısal İşleyişinin İncelenmesi.
- Published in:
- International Journal of Social Sciences (IJSS) / Uluslararasi Sosyal Bilimler Dergisi, 2023, v. 7, n. 30, p. 501, doi. 10.52096/usbd.7.30.34
- By:
- Publication type:
- Article
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 403, doi. 10.1111/cge.13473
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- Publication type:
- Article
Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 4, p. 857, doi. 10.1007/s13760-017-0786-7
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- Publication type:
- Article
Prospective Turkish Cohort Study to Investigate the Frequency of Niemann -Pick Disease Type C Mutations in Consanguineous Families with at Least One Homozygous Family Member.
- Published in:
- Molecular Diagnosis & Therapy, 2017, v. 21, n. 6, p. 643, doi. 10.1007/s40291-017-0293-9
- By:
- Publication type:
- Article
Genotype–phenotype analysis of human frontoparietal polymicrogyria syndromesURLs and accession numbers for data are listed in the Appendix on page 686.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 5, p. 680
- By:
- Publication type:
- Article
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 381, doi. 10.1002/jimd.12016
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- Publication type:
- Article
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0055-9
- By:
- Publication type:
- Article
Pediatric cardiology consultation at long-term video EEG monitoring.
- Published in:
- Annals of Medical of Research, 2023, v. 30, n. 1, p. 116, doi. 10.5455/annalsmedres.2022.09.281
- By:
- Publication type:
- Article
Impact of Recent Seizures on Cerebral Blood Flow in Patients With Sturge-Weber Syndrome: Study of 2 Cases.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 5, p. 617, doi. 10.1177/0883073807302597
- By:
- Publication type:
- Article
Streptococcus oralis as a Risk Factor for Middle Cerebral Artery Thrombosis.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 7, p. 611, doi. 10.1177/08830738050200071401
- By:
- Publication type:
- Article
Benign Familial Infantile Convulsions: Phenotypic Variability in a Family.
- Published in:
- Journal of Child Neurology, 2005, v. 20, n. 6, p. 535, doi. 10.1177/08830738050200061401
- By:
- Publication type:
- Article
Benign Neonatal Sleep Myoclonus Mimicking Status Epilepticus.
- Published in:
- Journal of Child Neurology, 2004, v. 19, n. 1, p. 62, doi. 10.1177/08830738040190010708
- By:
- Publication type:
- Article
Stroke Owing to Noncompaction of Myocardium.
- Published in:
- Journal of Child Neurology, 2003, v. 18, n. 6, p. 437
- By:
- Publication type:
- Article
Gender Prevalence in Childhood Multiple Sclerosis and Myasthenia Gravis.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 5, p. 390, doi. 10.1177/088307380201700516
- By:
- Publication type:
- Article