368 results on '"Miya, Fuyuki"'
Search Results
2. Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis
3. Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
4. Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
5. Time-dependent cell-state selection identifies transiently expressed genes regulating ILC2 activation
6. Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling
7. Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences
8. Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases
9. Revisiting the definition of glioma recurrence based on a phylogenetic investigation of primary and re-emerging tumor samples: a case report
10. Topologically associating domain underlies tissue specific expression of long intergenic non-coding RNAs
11. Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
12. Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype(s)
13. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
14. Four pedigrees with aminoacyl-tRNA synthetase abnormalities
15. Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
16. Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci
17. Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
18. Landscape of prognostic signatures and immunogenomics of the AXL/GAS6 axis in renal cell carcinoma
19. GATA2 deficiency of a novel missense variant with multiorgan inflammation
20. SALL4 deletion and renal and cardiac defects associated with VACTERL association
21. Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability
22. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders
23. Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance
24. Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy
25. Structural basis of ethnic-specific variants of PAX4 associated with type 2 diabetes
26. A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
27. Profiling the inhibitory receptors LAG-3, TIM-3, and TIGIT in renal cell carcinoma reveals malignancy
28. Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration
29. Biallelic null variants inPNPLA8cause microcephaly through the reduced abundance of basal radial glia
30. Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases
31. Unveiling synapse pathology in spinal bulbar muscular atrophy by genome-wide transcriptome analysis of purified motor neurons derived from disease specific iPSCs
32. Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice
33. A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation.
34. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome
35. Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role ofKMT2Cdisruption
36. Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses
37. sj-docx-1-cpc-10.1177_10556656231188205 - Supplemental material for Café-au-lait Spots and Cleft Palate: Not a Chance Association
38. Gene expression dataset for whole cochlea of Macaca fascicularis
39. Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report
40. Siblings with optic neuropathy and RTN4IP1 mutation
41. De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments
42. MO28-5 Clinical utility of comprehensive genomic profiling for patients with cancer of unknown primary site
43. Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non‐lethal form of Raine syndrome
44. Cover Image, Volume 176A, Number 3, March 2018
45. Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate
46. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology
47. A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10
48. IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis
49. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate
50. Digital clubbing without hypoxia for lysinuric protein intolerance
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