312 results on '"Triki, Chahnez"'
Search Results
2. Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy
3. Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability
4. A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity
5. Treatment of seizures in the neonate: Guidelines and consensus‐based recommendations—Special report from the ILAE Task Force on Neonatal Seizures
6. A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature
7. Transitional Care for Young People with Movement Disorders: Consensus‐Based Recommendations from the MDS Task Force on Pediatrics
8. Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region
9. Lessons learned from COVID-19 impact of pandemic on children with neurological disorders in Sfax, Tunisia
10. A Convolutional Gated Recurrent Neural Network for Epileptic Seizure Prediction
11. Personalized attention-based EEG channel selection for epileptic seizure prediction
12. Timing of referral to evaluate for epilepsy surgery: Expert Consensus Recommendations from the Surgical Therapies Commission of the International League Against Epilepsy
13. What is a clinical practice guideline? A roadmap to their development. Special report from the Guidelines Task Force of the International League Against Epilepsy
14. Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein
15. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
16. Relations entre les anomalies de l’EEG et l’évolution neurodéveloppementale de l’épilepsie partielle bénigne atypique de l’enfant
17. Counseling about sudden unexpected death in epilepsy (SUDEP): A global survey of neurologists’ opinions
18. Safety and efficacy of teriflunomide in paediatric multiple sclerosis (TERIKIDS): a multicentre, double-blind, phase 3, randomised, placebo-controlled trial
19. Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly
20. Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper.
21. Global survey on disruption and mitigation of neurological services during COVID-19: the perspective of global international neurological patients and scientific associations
22. A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation
23. Acute Demyelinating Syndromes: A report of child neurology department of Sfax University Hospital
24. Mitochondrial leucoencephalopathies: An under-diagnosed form of mitochondrial disease
25. Opsoclonus myoclonus induced by lamotrigine toxicity
26. Peripheral neuropathy due to mitochondrial disorders in pediatric patients
27. 8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects
28. Knowledge and attitudes toward epilepsy among people in Sfax region, Tunisia
29. A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
30. Global survey on disruption and mitigation of neurological services during COVID-19: the perspective of global international neurological patients and scientific associations
31. Disruptions of neurological services, its causes and mitigation strategies during COVID-19: a global review
32. Les conductions nerveuses motrices et sensitives des membres inférieurs chez l’enfant : valeurs normales
33. Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.
34. The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures
35. SRD5A3‐CDG : 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition
36. A Convolutional Gated Recurrent Neural Network for Epileptic Seizure Prediction
37. A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation
38. Les conductions nerveuses motrices des membres superieurs chez l’enfant : valeurs normales
39. Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression
40. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies
41. Neurological Nuance: Sporadic Burkitt's Lymphoma Presenting with Guillain–Barre Syndrome
42. First description of an unusual novel double mutation in MECP 2 co‐occurring with the m.827A>G mutation in the MT‐RNR1 gene associated with angelman‐like syndrome
43. Neurological Manifestations of Sanjad–Sakati Syndrome: New Three Reported Cases from Tunisia
44. Position Statement:Emerging genetic therapies for rare disorders
45. A novel de novo splicing mutation c.1444‐2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome
46. Early Onset and Severe Progression of Neuro-ophthalmological Manifestations in a Case with Parry–Romberg Syndrome
47. Access to Pediatric Neurology Training and Services Worldwide: A Survey by the International Child Neurology Association.
48. Mutation in the β‐tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.
49. Juvenile Dermatomyositis Without Skin Lesions in an Antinuclear Matrix Protein 2 Antibody Seropositive Pediatric Case.
50. Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
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