204 results on '"Ibrahim, Shahnaz"'
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2. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
3. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
4. Challenging the assumptions of social entrepreneurship education and repositioning it for the future: wonders of cultural, social, symbolic and economic capitals
5. Paediatric posterior reversible encephalopathy syndrome: is there an association of blood pressure with imaging severity and atypical magnetic resonance characteristics?
6. Spectrum of Common Pediatric Neurological Disorders: A Cross-Sectional Study From Three Tertiary Care Centres Across Pakistan
7. Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country
8. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
9. Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing
10. Atypical presentation of biotinidase deficiency: masquerading neuromyelitis optica spectrum disorder.
11. Corporate Social Responsibility in small and medium-sized enterprises : a developing country perspective
12. Clinical Spectrum, Treatment and Outcome of Children with Autoimmune Encephalitis.
13. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
14. CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children
15. Aetiology, Clinical Presentation and Outcome of Patients Presenting with Acute Flaccid Paralysis in a Tertiary Care Hospital
16. Low glycemic index therapy in children with sub-acute sclerosing panencephalitis (SSPE): an experience from a measles-endemic country
17. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
18. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
19. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
20. Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report
21. P097: Clinical whole genome sequencing for a highly consanguineous population in low-resource settings: Experience from an academic medical center in Pakistan
22. Egypt
23. The spectrum of hereditary neuromuscular disorders in the Pakistani population.
24. Dual nature of the relationship between corporate social responsibility and human resource management : a blessing or a curse?
25. Actioning sustainability through tourism entrepreneurship: Women entrepreneurs as change agents navigating through the field of stakeholders
26. Neurodevelopmental Outcomes of Premature Infants at a Tertiary Care Center in Pakistan
27. Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
28. Dual nature of the relationship between corporate social responsibility and human resource management: A blessing or a curse?
29. Corporate Social Responsibility (CSR) in Small and Medium-Sized Enterprises: A Developing Country Perspective
30. Acute retinal necrosis with exudative retinal detachment in a child
31. A novel homozygous frameshift variant in SPTBN4 causes axonal neuropathy with intellectual disability in a consanguineous family
32. Association of Risk Factors for Early Childhood Disability in Rural Pakistan
33. The Upsurge of SSPE—A Reflection of National Measles Immunization Status in Pakistan
34. Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
35. sj-docx-1-aph-10.1177_10105395211048318 ��� Supplemental material for Association of Risk Factors for Early Childhood Disability in Rural Pakistan
36. Concentrations of Lead, Mercury, Arsenic, Cadmium, Manganese, and Aluminum in the Blood of Pakistani Children with and without Autism Spectrum Disorder and Their Associated Factors
37. Referral Profile of Developmental Disabilities at a Tertiary Care Hospital in a Resource-limited Country.
38. Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability
39. Prevalence of early childhood disability in a rural district of Sind, Pakistan
40. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
41. Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
42. Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
43. Brain Calcinosis and Seizures in an Adolescent Boy
44. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
45. Association of Risk Factors for Early Childhood Disability in Rural Pakistan.
46. Gendered Relationships and Socio-Economic Practices in Sustainable Tourism in Turkey
47. Subacute sclerosing panencephalitis – current perspectives
48. BOURDIEU’NÜN SERMAYE KURAMI VE TOPLUMSAL CİNSİYET BAKIŞ AÇISIYLA SÜRDÜRÜLEBİLİR TURİZMDE GİRİŞİMCİLİK
49. Social Entrepreneurship and Sustainability in Tourism and Hospitality
50. MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study
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