182 results on '"Almannai, Mohammed"'
Search Results
2. Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review
3. KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
4. Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia
5. Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review
6. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
7. A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene
8. Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.
9. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
10. Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
11. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial
12. Method to Operate Water Wells at Optimum Rates Utilizing Orifice Performance Curves
13. P102: KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
14. KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon
15. WIPI proteins: Biological functions and related syndromes
16. Mitochondrial DNA maintenance defects: potential therapeutic strategies
17. Molecular and clinical spectra of FBXL4 deficiency
18. Disorders of histone methylation: Molecular basis and clinical syndromes
19. Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes
20. Corner Fracture Type Spondylometaphyseal Dysplasia: Overlap with Type II Collagenopathies
21. HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
22. El‐Hattab‐Alkuraya syndrome caused by biallelicWDR45Bpathogenic variants: Further delineation of the phenotype and genotype
23. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
24. A homozygous frame‐shift variant inPROSER1is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features
25. Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature
26. Tyrosinemia type I: an unusual case presentation
27. Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience
28. Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline
29. Metabolic Seizures
30. Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
31. The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data
32. Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy
33. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
34. A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.
35. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
36. Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn
37. Clinical trials in mitochondrial disorders, an update
38. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
39. Cell-based analysis ofCADvariants identifies individuals likely to benefit from uridine therapy
40. Further delineation of METTL23 ‐associated intellectual disability
41. Opsismodysplasia and Dilated Cardiomyopathy: a case report
42. Harel-Yoon syndrome: the first case report from Saudi Arabia
43. 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
44. Carnitine Inborn Errors of Metabolism
45. 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
46. A case report of de novo 11q triplication, duplication, and segmental area of absence of heterozygosity in an infant with dysmorphic features, failure to thrive, and developmental delay.
47. Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases
48. Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.
49. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
50. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review
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