224 results on '"Haghighi, Alireza"'
Search Results
2. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
3. Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
4. Geographic variation in the association between Hashimoto’s thyroiditis and Papillary thyroid carcinoma, a meta-analysis
5. Thermo-capillary-gravity bidirectional modelling for evaluation and design of wire-based directed energy deposition additive manufacturing
6. Distributed interference cancellation in multi-agent scenarios
7. Protein-protected metal nanoclusters as diagnostic and therapeutic platforms for biomedical applications
8. Genetic Determinants of Sudden Unexpected Death in Pediatrics
9. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery
10. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
11. State of the Art in the Optimisation of Wind Turbine Performance Using CFD
12. A neural network-based scheme for predicting critical unmeasurable parameters of a free piston Stirling oscillator
13. A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
14. Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
15. Genetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing
16. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy
17. Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy
18. Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus
19. Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age
20. Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations
21. Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations
22. Gold nanostructures : synthesis, properties, and neurological applications
23. The "Velvet Revolution" of Iranian Puritan Hardliners: Mahmoud Ahmadinejad's Rise to Power
24. Aripiprazole Versus Risperidone for Treating Children and Adolescents with Tic Disorder: A Randomized Double Blind Clinical Trial
25. Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.
26. Gold nanostructures: synthesis, properties, and neurological applications
27. Neonatal Diabetes Due to a Mutation in the Distal PTF1A Enhancer: A Case Report and Literature Review
28. HEART DISEASE: Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy
29. Contribution of Noncanonical Splice Variants toTTNTruncating Variant Cardiomyopathy
30. Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy
31. Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children
32. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency
33. Genetic determinants of Sudden Unexpected Death in Pediatrics (SUDP)
34. Association of Parental Consanguinity With Papillary Thyroid Carcinoma: A Case-Control Study
35. NUMERICAL MODELING THE EFFECTS OF ADDITIVE MANUFACTURING PARAMETERS, HEAT TREATMENT AND ORIENTATION ON RESIDUAL STRESS AND DISTORTION OF METAL POWDER IN718 PUMP IMPELLER FABRICATION
36. Genetic Determinants of Sudden Unexpected Death in Pediatrics
37. Developing More Efficient Wind Turbines: A Survey of Control Challenges and Opportunities
38. EFFECTS OF WELDING CURRENT AND SPEED ON RESIDUAL STRESS AND DISTORTION OF JOINING ST52 ROLLED PLATE IN DIFFERENT WELDING SEQUENCES
39. Genetic study of pediatric hypertrophic cardiomyopathy in Egypt
40. SEQUENCE VARIANTS IN TITIN CAUSING SPLICING DEFECTS AND CARDIOMYOPATHY: INSIGHTS FOR GENE BASED DIAGNOSIS AND NORMAL PHYSIOLOGY
41. Neonatal Diabetes Due to a Mutation in the Distal PTF1A Enhancer: A Case Report and Literature Review.
42. Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children.
43. Genetic parameters and combining ability of some important traits in rice (Oryza sativa L.)
44. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
45. EFFECTS OF WELDING PARAMETERS, TIME INTERVAL AND PREHEATING ON RESIDUAL STRESS AND DISTORTION OF JOINING ST52 STIFFENER RING IN AN AISI 4130 TUBULAR SHELL
46. Assessment of damping coefficients ranges in design of a free piston Stirling engine: Simulation and experiment
47. State of the Art in the Optimisation of Wind Turbine Performance Using CFD
48. Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322
49. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
50. Consanguinity and the Risk of Hashimoto's Thyroiditis
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