557 results on '"Ohtake, Akira"'
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2. Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors
3. Antibody Deficiency in Patients with Biallelic KARS1 Mutations
4. Novel ITPA variants identified by whole genome sequencing and RNA sequencing
5. Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene
6. Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
7. Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II
8. Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
9. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
10. A case of osteogenesis imperfecta diagnosed after subchondral insufficiency fracture of bilateral femoral heads
11. Corrigendum to “Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II” [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021]
12. Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment
13. A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction
14. Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency (ECHS1D)
15. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
16. Decidualized Endometrial Stromal Cells Promote Mitochondrial Beta-Oxidation to Produce the Octanoic Acid Required for Implantation.
17. Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene
18. Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses
19. Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
20. Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
21. A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
22. Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders
23. Apomorphine is a potent inhibitor of ferroptosis independent of dopaminergic receptors
24. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
25. Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases
26. Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions
27. Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
28. Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family
29. Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022
30. Strategic validation of variants of uncertain significance inECHS1genetic testing
31. Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases
32. Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease
33. Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
34. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome
35. A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy
36. Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
37. Strategic validation of variants of uncertain significance inECHS1genetic testing
38. Sequential MRI of the brain in a patient with Leigh syndrome revealed extensive changes and the development of posterior reversible encephalopathy syndrome
39. Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease
40. Loss of mitochondrial fatty acid β‐oxidation protein short‐chain Enoyl‐CoA hydratase disrupts oxidative phosphorylation protein complex stability and function
41. Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate
42. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
43. HDR‐del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing
44. High‐dose Cepharanthin for pediatric chronic immune thrombocytopenia in Japan
45. Preoperative urinary tract obstruction in scoliosis patients
46. Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review
47. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita
48. Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation
49. Detection of Δ4-3-oxo-steroid 5β-reductase deficiency by LC–ESI-MS/MS measurement of urinary bile acids
50. Additional file 2 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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