283 results on '"Watanabe, Yoriko"'
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2. Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
3. Comparison of Comprehensive Genomic Profiling Testing “Ion Torrent Genexus Sequencer” with FoundationOne
4. Diabetes mellitus exacerbates citrin deficiency via glucose toxicity
5. Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan
6. Contrast Effects and Approval Voting: An Illustration of a Systematic Violation of the Independence of Irrelevant Alternatives Condition
7. Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia
8. The Feeder Effects of Cultured Rice Cells on the Early Development of Rice Zygotes.
9. Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study
10. Erratum for DOI: 10.53044/jinr.2021-0014
11. The c.1617del variant of TMEM260is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
12. Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
13. Moving towards a novel therapeutic strategy for hyperammonemia that targets glutamine metabolism
14. Biosynthesis of poly(3-hydroxybutyrate-co-3-hydroxy-4-methylvalerate) by recombinant Escherichia coli expressing leucine metabolism-related enzymes derived from Clostridium difficile
15. Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries
16. Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan
17. Effectiveness of using near-infrared vein visualizers by nurses in promoting successful peripheral venous catheterization in patients receiving chemotherapy
18. Novel AP3B1 mutations in a Hermansky–Pudlak syndrome type2 with neonatal interstitial lung disease
19. Author response for 'Novel AP3B1 mutations in a Hermansky-Pudlak syndrome type2 with neonatal interstitial lung disease'
20. A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder
21. Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan
22. Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation
23. A comparison of head-out mist bathing, with or without facial fanning, with head-out half-body low-water level bathing in humans—a pilot study
24. Characterization of biosynthesized P(3HB- co-3HA)s swellable in organic solvents
25. Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan
26. Novel AP3B1 mutations in a Hermansky--Pudlak syndrome type2 with neonatal pulmonary fibrosis
27. Food Preferences of Patients with Citrin Deficiency
28. Ultra-widefield and anterior-segment optical coherence tomography in Alagille syndrome
29. De novo KCNT1 mutations in early-onset epileptic encephalopathy
30. Changes in prevalence of subjective fatigue during 14-day 6° head-down bed rest
31. Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
32. Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED
33. Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia
34. Enhanced Incorporation of 3-Hydroxy-4-Methylvalerate Unit into Biosynthetic Polyhydroxyalkanoate Using Leucine as a Precursor
35. Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan
36. Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients
37. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
38. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome
39. MLL2 and KDM6A mutations in patients with Kabuki syndrome
40. Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation
41. Aberrant Methylation of H19-DMR Acquired After Implantation Was Dissimilar in Soma Versus Placenta of Patients With Beckwith–Wiedemann Syndrome
42. Effects of Inflammatory Cytokines Induced by Helicobacter pylori Infection on Aminopyrine Accumulation in Parietal Cells Isolated from Guinea Pigs
43. Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations
44. Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency
45. Late‐onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults
46. West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother
47. Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: Identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray
48. Programming of cell death during xylogenesis
49. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys–Dietz syndrome
50. Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation
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