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A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00603-5
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- Publication type:
- Article
Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency due to a Variant in HADHA Gene.
- Published in:
- Iranian Journal of Pathology, 2024, v. 19, n. 3, p. 355, doi. 10.30699/IJP.2024.2010490.3163
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- Publication type:
- Article
An open-label phase 1 clinical trial of the allogeneic side population adipose-derived mesenchymal stem cells in SMA type 1 patients.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 1, p. 399, doi. 10.1007/s10072-021-05291-2
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- Publication type:
- Article
Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08916-4
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- Publication type:
- Article
Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population.
- Published in:
- Journal of Child Neurology, 2020, v. 35, n. 7, p. 448, doi. 10.1177/0883073820905157
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- Publication type:
- Article
The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 4, p. 255, doi. 10.1177/0883073817751804
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- Publication type:
- Article
Selection of Suitable Reference Genes for Analysis of Salivary Transcriptome in Non-Syndromic Autistic Male Children.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 10, p. 1711, doi. 10.3390/ijms17101711
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- Publication type:
- Article
Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
The safety and efficacy of umbilical cord blood mononuclear cells in individuals with spastic cerebral palsy: a randomized double-blind sham-controlled clinical trial.
- Published in:
- BMC Neurology, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12883-022-02636-y
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- Publication type:
- Article
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00598-5
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- Publication type:
- Article
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.
- Published in:
- Cerebellum, 2023, v. 22, n. 4, p. 640, doi. 10.1007/s12311-022-01430-3
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- Publication type:
- Article
Levetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trial.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy.
- Published in:
- Journal of Molecular Neuroscience, 2022, v. 72, n. 5, p. 1125, doi. 10.1007/s12031-022-01993-0
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- Publication type:
- Article
The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.
- Published in:
- Journal of Molecular Neuroscience, 2020, v. 70, n. 10, p. 1565, doi. 10.1007/s12031-020-01594-9
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- Publication type:
- Article
Clinical and imaging outcomes after intrathecal injection of umbilical cord tissue mesenchymal stem cells in cerebral palsy: a randomized double-blind sham-controlled clinical trial.
- Published in:
- Stem Cell Research & Therapy, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13287-021-02513-4
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- Publication type:
- Article
Differentiating Post–Digital Nannying Autism Syndrome from Autism Spectrum Disorders in Young Children: A Comparative Cross-Sectional Study.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 22, p. 6786, doi. 10.3390/jcm11226786
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- Publication type:
- Article
Sexual Dimorphism in Telomere Length in Childhood Autism.
- Published in:
- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 5, p. 2050, doi. 10.1007/s10803-022-05486-2
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- Publication type:
- Article
Neurologic Manifestations of Coronavirus Disease 2019 in Children: An Iranian Hospital-Based Study.
- Published in:
- Archives of Iranian Medicine (AIM), 2023, v. 26, n. 3, p. 166, doi. 10.34172/aim.2023.25
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- Publication type:
- Article
Photoclinic.
- Published in:
- 2022
- By:
- Publication type:
- Test/Instrument
Common Coronavirus Disease 2019 Upper Respiratory Tract Sampling Techniques in Children.
- Published in:
- Journal of Iranian Medical Council (JIMC), 2023, v. 6, n. 1, p. 29, doi. 10.18502/jimc.v6i1.11839
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- Publication type:
- Article
We need well-designed multicenter studies to investigate neurologic manifestations of coronavirus disease 2019.
- Published in:
- Current Journal of Neurology, 2020, v. 19, n. 3, p. 150
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- Publication type:
- Article
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.
- Published in:
- Cell Journal (Yakhteh), 2019, v. 21, n. 3, p. 337, doi. 10.22074/cellj.2019.6053
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- Publication type:
- Article
A case of catecholaminergic polymorphic ventricular tachycardia masquerading as an intractable seizure.
- Published in:
- Annals of Pediatric Cardiology, 2020, v. 13, n. 2, p. 141, doi. 10.4103/apc.APC_73_19
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- Publication type:
- Article
The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 211, doi. 10.3233/JND-221614
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- Publication type:
- Article
Childhood Guillain–Barre syndrome in the SARS‐CoV‐2 era: Is there any causative relation?
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Bilateral horizontal gaze palsy in an 8‐year‐old girl: A rare case with NDUFS4 gene mutation.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A comparative study on prophylactic efficacy of cinnarizine and amitriptyline in childhood migraine: a randomized double-blind clinical trial.
- Published in:
- Cephalalgia, 2024, v. 44, n. 4, p. 1, doi. 10.1177/03331024241230963
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- Publication type:
- Article
The Value of Long-term Video EEG Monitoring to Diagnose and Track Childhood Epilepsy.
- Published in:
- Iranian Journal of Child Neurology, 2024, v. 18, n. 1, p. 9, doi. 10.22037/ijcn.v18i1.43012
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- Publication type:
- Article
A Comparative Study of EEG and aEEG in Seizure Diagnosis in Infants Admitted to the NICU.
- Published in:
- Iranian Journal of Child Neurology, 2023, v. 17, n. 4, p. 147, doi. 10.22037/ijcn.v17i4.37554
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- Publication type:
- Article
The Efficacy of the Ketogenic Diet in Improving Seizures and EEG Findings in Patients with Refractory Infantile Spasms.
- Published in:
- Iranian Journal of Child Neurology, 2022, v. 16, n. 4, p. 45, doi. 10.22037/ijcn.v16i3.31429
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- Publication type:
- Article
Patterns of Antiepileptic Drug Reactions in Children: A Multicenter Study.
- Published in:
- Iranian Journal of Child Neurology, 2022, v. 16, n. 3, p. 133, doi. 10.22037/ijcn.v16i3.32872
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- Publication type:
- Article
The first febrile seizure; predisposing factors and recurrence rate.
- Published in:
- Iranian Journal of Child Neurology, 2021, v. 15, n. 2, p. 59, doi. 10.22037/ijcn.v15i1.15644
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- Publication type:
- Article
Clonidine Versus Chloral Hydrate for Recording Sleep EEG in Children.
- Published in:
- Iranian Journal of Child Neurology, 2020, v. 14, n. 1, p. 85
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- Publication type:
- Article
The Impact of Manual Ability Level on Participation of Children with Cerebral Palsy in Life Areas: A Cross-Sectional Study.
- Published in:
- Iranian Journal of Child Neurology, 2019, v. 13, n. 3, p. 83
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- Publication type:
- Article
Does Parent Report Gross Motor Function Level of Cerebral Palsy Children Impact on the Quality of Life in these Children?
- Published in:
- Iranian Journal of Child Neurology, 2017, v. 11, n. 4, p. 52
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- Publication type:
- Article
CNS Structural Anomalies in Iranian Children with Global Developmental Delay.
- Published in:
- 2013
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- Publication type:
- Journal Article
CNS Structural Anomalies in Iranian Children with Global Developmental Delay.
- Published in:
- Iranian Journal of Child Neurology, 2013, v. 7, n. 1, p. 25
- By:
- Publication type:
- Article
A Rare Cytogenetic Variant of Monosomy 18p Syndrome as a Consequence of Whole-Arm Translocation between Chromosomes 13 and 18.
- Published in:
- 2019
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- Publication type:
- Case Study
Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice.
- Published in:
- Acta Neurologica Belgica, 2022, v. 122, n. 6, p. 1457, doi. 10.1007/s13760-022-02095-9
- By:
- Publication type:
- Article
Efficacy of low glycemic index treatment in epileptic patients: a systematic review.
- Published in:
- Acta Neurologica Belgica, 2018, v. 118, n. 3, p. 339, doi. 10.1007/s13760-018-0881-4
- By:
- Publication type:
- Article
Associations between Symptom Severity of Autism Spectrum Disorder and Screen Time among Toddlers Aged 16 to 36 Months.
- Published in:
- Behavioral Sciences (2076-328X), 2023, v. 13, n. 3, p. 208, doi. 10.3390/bs13030208
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- Publication type:
- Article
The Coronavirus Disease 2019 (COVID-19) in Children: A Study in an Iranian Children's Referral Hospital.
- Published in:
- Infection & Drug Resistance, 2020, v. 13, p. 2649, doi. 10.2147/IDR.S259064
- By:
- Publication type:
- Article
Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.
- Published in:
- Developmental Neuroscience, 2021, v. 43, n. 6, p. 348, doi. 10.1159/000519318
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- Publication type:
- Article
Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.
- Published in:
- Oman Medical Journal, 2020, v. 35, n. 1, p. 86, doi. 10.5001/omj.2020.11
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- Publication type:
- Article
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.
- Published in:
- Molecular Biology Reports, 2022, v. 49, n. 8, p. 7231, doi. 10.1007/s11033-022-07353-w
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- Publication type:
- Article
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion).
- Published in:
- Human Mutation, 2022, v. 43, n. 4, p. e1, doi. 10.1002/humu.24328
- By:
- Publication type:
- Article
A Comparison Of Conventional Electroencephalography With Amplitude-Integrated EEG In Detection Of Neonatal Seizures.
- Published in:
- Medical Devices: Evidence & Research, 2019, v. 12, p. 489, doi. 10.2147/MDER.S214662
- By:
- Publication type:
- Article
Association of the Single Nucleotide Polymorphisms of the Genes Encoding IL-2 and IFN-γ with Febrile Seizure.
- Published in:
- Acta Medica Iranica, 2017, v. 55, n. 6, p. 354
- By:
- Publication type:
- Article
COLQ-related congenital myasthenic syndrome: An integrative view.
- Published in:
- Neurogenetics, 2023, v. 24, n. 3, p. 189, doi. 10.1007/s10048-023-00719-7
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- Publication type:
- Article
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice