238 results on '"Al-Maawali, Almundher"'
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2. Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
3. A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation
4. LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
5. Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
6. Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
7. Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature
8. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
9. Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study
10. Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period
11. Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation
12. The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
13. Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis
14. Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing
15. Oman genome project is the future of using genomics as the determinant of health and disease in the society
16. LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
17. Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans
18. Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
19. Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder
20. Further clinical and molecular delineation of Xp11.22 deletion syndrome: A case report
21. Biallelic variants of the first Kunitz domain of SPINT2 cause a non‐syndromic form of congenital diarrhea and tufting enteropathy.
22. Biallelic variants of the first Kunitz domain of SPINT2 cause a non‐syndromic form of congenital diarrhea and tufting enteropathy
23. A Biallelic Variant of the RNA Exosome GeneEXOSC4Causes Translational Defects Associated with a Neurodevelopmental Disorder
24. Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder
25. Biallelic variants of the first Kunitz domain of SPINT2 cause none syndromic form of congenital diarrhea and tufting enteropathy
26. A homozygous loss-of-function C1S mutation is associated with Kikuchi-Fujimoto disease
27. The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach
28. MLIP-Associated Myopathy: A Case Report and Review of the Literature
29. Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
30. Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study
31. Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase (ASNS) Gene
32. Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita
33. Inactivation of DRG1, encoding a translation factor GTPase, causes a Recessive Neurodevelopmental Disorder
34. Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
35. BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency
36. TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia
37. The Genetic Spectrum of Familial Hypertriglyceridemia in Oman
38. Further phenotypic delineation of Alazami syndrome
39. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation
40. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
41. De novo NSD1 mutation leading to Sotos syndrome – First case report from Oman
42. Subcutaneous fat pads on body MRI – an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a)
43. BiallelicPTRHD1Frameshift Variants Associated with Intellectual Disability, Spasticity, and Parkinsonism
44. Prospective study of activities of daily living outcomes in children with cerebellar atrophy
45. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21–q22 and identification of a critical region associated with keratosis pilaris
46. Novel mutation in interleukin 1 receptor antagonist associated with chronic diarrhoea in infancy
47. Review for "FARS1 ‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐ tRNA synthetase genes: look beyond the lungs!"
48. Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
49. XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome
50. Complex II deficiency—A case report and review of the literature
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