201 results on '"Mahajnah, Muhammad"'
Search Results
2. The relationship between parental stress and mastery, forgiveness, and social support among parents of children with autism
3. SCAPER -Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.
4. Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect the diagnostic yield?
5. Multidomain Cognitive Impairment in Children With Pseudotumor Cerebri Syndrome
6. First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
7. Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority
8. A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome
9. Modeling genetic epileptic encephalopathies using brain organoids
10. A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy
11. Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation
12. Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
13. High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome
14. PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis
15. Prospective, Cross-Sectional Study Finds No Common Viruses in Cerebrospinal Fluid of Children with Pseudotumor Cerebri
16. CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses
17. Mental retardation and consanguinity in a selected region of the Israeli Arab community
18. Effect of Women’s Status on Consanguinity in the Arab Society of Israel
19. The prevailing trend of consanguinity in the Arab society of Israel: is it still a challenge?
20. The prevailing trend of consanguinity in the Arab society of Israel: is it still a challenge?
21. Epidemiological characteristics of febrile seizures—Comparing between Bedouin and Jews in the Southern part of Israel
22. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
23. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
24. Correction to: First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
25. Corrigendum to “Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect diagnostic yield?” [Seizure 79 (2020) 86–89]
26. Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation
27. Modeling Genetic Epileptic Encephalopathies using Brain Organoids
28. Pseudotumor Cerebri Syndrome in Young Children: What Is the Difference From Adults?
29. Pre-endoscopic tachycardia predicts increased sedation dose and lower adenoma detection rate in patients undergoing endoscopic procedures: a case control study
30. Pseudotumor Cerebri Syndrome: From Childhood to Adulthood Risk Factors and Clinical Presentation
31. A novel biallelic loss‐of‐function mutation inTMCO1gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia
32. Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
33. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
34. Exploration of Risk Factors for Type 2 Diabetes among Arabs in Israel
35. Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family
36. The Clinical Characteristics of ADHD Diagnosed in Adolescents in Comparison With Younger Children.
37. Clinical Features at the Time of Diagnosis of Benign Epilepsy With Centrotemporal Spikes Do Not Predict Subsequent Seizures
38. The Clinical Characteristics of ADHD Diagnosed in Adolescents in Comparison With Younger Children
39. Homozygous mutation inPTRH2gene causes progressive sensorineural deafness and peripheral neuropathy
40. Case 1: Seizures and Rashes Do Run in the Family
41. A novel biallelic loss‐of‐function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia.
42. Comparative screening of FMF mutations in various communities of the Israeli society
43. Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
44. A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1
45. Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report
46. Multiplex families with epilepsy
47. Consanguinity and Its Effect on Morbidity and Congenital Disorders Among Arabs in Israel
48. Alexander Disease in Israel: Megalencephaly and Leukoencephalopathy and Its Differential Diagnosis
49. The impact of nutritional vitamin B12, folate and hemoglobin deficiency on school performance of elementary school children
50. Prevalence of epilepsy in Bedouin children: A cross-sectional study in Southern Israel
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