845 results on '"Yoshiura, Koh-ichiro"'
Search Results
2. A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene
3. 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
4. Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
5. Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis
6. 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
7. Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing
8. Autoinflammatory disease: clinical perspectives and therapeutic strategies
9. Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model
10. BCS1L mutations produce Fanconi syndrome with developmental disability
11. Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia
12. Correction: Autoinflammatory disease: clinical perspectives and therapeutic strategies
13. General Remarks About Autosomal Diseases
14. Bile extracellular vesicles from end-stage liver disease patients show altered microRNA content
15. Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities
16. Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
17. General Remarks About Autosomal Diseases
18. A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models
19. Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits
20. Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics
21. Exploration of genetic causes of biparental placenta mesenchymal dysplasia
22. Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion
23. Cardiac Emerinopathy: A Non-syndromic Nuclear Envelopathy with Increased Risk of Thromboembolic Stroke due to Progressive Atrial Standstill and Left Ventricular Non-compaction
24. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
25. Identification of a novel CCDC22 mutation in a patient with severe Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia
26. Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
27. A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency
28. Genetic variants in oxytocin receptor and arginine-vasopressin receptor 1A are associated with the neural correlates of maternal and paternal affection towards their child
29. KN3014, a piperidine-containing small compound, inhibits auto-secretion of IL-1β from PBMCs in a patient with Muckle–Wells syndrome
30. Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report
31. KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)
32. EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report
33. Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm
34. A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure
35. Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing
36. A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome
37. 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
38. Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities
39. Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer
40. Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma Transforming into Diffuse Large B-Cell Lymphoma in a Young Adult Patient with Neurofibromatosis Type 1: A Case Report
41. Targeted deep sequencing analyses of long QT syndrome in a Japanese population
42. Autoinflammatory disease: clinical perspectives and therapeutic strategies
43. Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death
44. Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum
45. Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation
46. Alvocidib inhibits IRF4 expression via super‐enhancer suppression and adult T‐cell leukemia/lymphoma cell growth
47. Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia
48. A familial case of B‐cell expansion with NF‐κB and T‐cell anergy caused by a G123D heterozygous missense mutation in the CARD11 gene
49. Anti‐desmoglein 1 antibody‐positive mother and antibody‐negative child with Darier's disease
50. Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma
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