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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
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.
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- Molecular Diagnosis & Therapy, 2017, v. 21, n. 6, p. 643, doi. 10.1007/s40291-017-0293-9
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- Publication type:
- Article
l-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 22, p. 2803, doi. 10.1093/hmg/ddh300
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- Publication type:
- Article
Removal of textile dyes from aqueous solutions with eco-friendly biosorbent.
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- Desalination & Water Treatment, 2012, v. 37/38, n. 1-3, p. 169, doi. 10.1080/19443994.2012.661269
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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
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- Publication type:
- Article
Amperometric Phenol Biosensor Based on Horseradish Peroxidase Entrapped PVF and PPy Composite Film Coated GC Electrode.
- Published in:
- Applied Biochemistry & Biotechnology, 2010, v. 160, n. 3, p. 856, doi. 10.1007/s12010-009-8534-y
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- Publication type:
- Article
Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience.
- Published in:
- 2019
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- Publication type:
- journal 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.
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- Child's Nervous System, 2006, v. 22, n. 10, p. 1322
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- 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
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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
Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.
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- Molecular Syndromology, 2024, v. 15, n. 2, p. 130, doi. 10.1159/000534587
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- Publication type:
- Article
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
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- 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
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
Letters to the editor.
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- Muscle & Nerve, 1996, v. 19, n. 5, p. 675, doi. 10.1002/mus.880190502
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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.
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- 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.
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- 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.
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- 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
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- Publication type:
- Letter
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
The seizure semiology consistent with frontal lobe symptomatogenic zone in children.
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- 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.
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- 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
Semiological seizure classification of epileptic seizures in children admitted to video-EEG monitoring unit.
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- Turkish Journal of Pediatrics, 2015, v. 57, n. 4, p. 317
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- Publication type:
- Article
Conventional and advanced MR imaging in infantile Refsum disease.
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- Turkish Journal of Pediatrics, 2015, v. 57, n. 3, p. 294
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- Publication type:
- Article
Usefulness of long-term video-EEG monitoring in children at a tertiary care center.
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- 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.
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- Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 413
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- Publication type:
- Article
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
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19919-y
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- Publication type:
- Article
Recurrent pseudotumoral hemicerebellitis: neuroimaging findings.
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- Pediatric Radiology, 2008, v. 38, n. 4, p. 462, doi. 10.1007/s00247-007-0725-5
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- Publication type:
- Article
Eğitim Felsefesi Çerçevesinde Lider-Yönetici Dikotomisinde Demokrasi Kültürünün İncelenmesi.
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- 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.
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- International Journal of Social Sciences (IJSS) / Uluslararasi Sosyal Bilimler Dergisi, 2023, v. 7, n. 30, p. 501, doi. 10.52096/usbd.7.30.34
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- Publication type:
- Article
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
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- 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
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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
Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
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
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 130, doi. 10.1002/humu.20062
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- Publication type:
- Article
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
- Published in:
- Human Mutation, 2004, v. 23, n. 4, p. 300, doi. 10.1002/humu.20018
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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
Surgical management of temporal lobe tumor-related epilepsy in children.
- Published in:
- Journal of Neurosurgery, 2005, v. 102, n. 3, p. 280, doi. 10.3171/ped.2005.102.3.0280
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- 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
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
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
D-Bifonksiyonel Protein Eksikliği: Olgu Sunumu.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
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
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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