Hiroyuki Mishima

Ontology type: schema:Person     

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Publications in SciGraph latest 50 shown

  • 2021-10-15 BCS1L mutations produce Fanconi syndrome with developmental disability in JOURNAL OF HUMAN GENETICS
  • 2021-08-28 Granulocyte collection by polymorphonuclear cell-targeting apheresis with medium-molecular-weight hydroxyethyl starch in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2021-07-17 Optimization of lymphapheresis for manufacturing autologous CAR-T cells in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2021-06-02 Bile extracellular vesicles from end-stage liver disease patients show altered microRNA content in HEPATOLOGY INTERNATIONAL
  • 2021-02-18 A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models in TRANSLATIONAL PSYCHIATRY
  • 2020-06-22 Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report in BMC ENDOCRINE DISORDERS
  • 2019-12-13 KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup) in HUMAN GENOME VARIATION
  • 2019-09-02 Heterogenous nature of gene expression patterns in BRAF-like papillary thyroid carcinomas with BRAFV600E in ENDOCRINE
  • 2019-05-29 Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan in JOURNAL OF HUMAN GENETICS
  • 2019-02-22 Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome in JOURNAL OF HUMAN GENETICS
  • 2019-01-31 Identification of a novel CCDC22 mutation in a patient with severe Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2019-01-28 A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency in JOURNAL OF HUMAN GENETICS
  • 2018-12-04 Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer in CLINICAL EPIGENETICS
  • 2018-02-07 Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2018-02-02 Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder in TRANSLATIONAL PSYCHIATRY
  • 2017-12-26 Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing in JOURNAL OF HUMAN GENETICS
  • 2017-11-09 Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism in HUMAN GENOME VARIATION
  • 2017-07-27 Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death in JOURNAL OF HUMAN GENETICS
  • 2017-07-27 Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease in HUMAN GENOME VARIATION
  • 2017-01-12 Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2016-05-19 A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population in JOURNAL OF HUMAN GENETICS
  • 2016-03-09 Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2015-09-28 A case of neonatal-onset autoinflammatory syndrome with a de novo PSMB9 mutation resembling Nakajo-Nishimura syndrome in PEDIATRIC RHEUMATOLOGY
  • 2015-07-16 Germline mutations causing familial lung cancer in JOURNAL OF HUMAN GENETICS
  • 2014-02-13 Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US in JOURNAL OF HUMAN GENETICS
  • 2013-03-07 Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer in JOURNAL OF HUMAN GENETICS
  • 2012-09-21 The Ruby UCSC API: accessing the UCSC genome database using Ruby in BMC BIOINFORMATICS
  • 2012-04-01 Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair in NATURE GENETICS
  • 2011-09-08 Agile parallel bioinformatics workflow management using Pwrake in BMC RESEARCH NOTES
  • 2008-05-28 Application of the Linux cluster for exhaustive window haplotype analysis using the FBAT and Unphased programs in BMC BIOINFORMATICS
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