Search Results1-20 of  22

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  • Tsurusaki Yoshinori ID: 9000275829528

    Articles in CiNii:1

    • Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing (2014)
  • Tsurusaki Yoshinori ID: 9000309561856

    Articles in CiNii:1

    • Novel compound heterozygous LIAS mutations cause glycine encephalopathy (2015)
  • Tsurusaki Yoshinori ID: 9000318614374

    Articles in CiNii:1

    • Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder (2016)
  • Tsurusaki Yoshinori ID: 9000324662897

    Articles in CiNii:1

    • De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (2016)
  • Tsurusaki Yoshinori ID: 9000326638165

    Articles in CiNii:1

    • Human genetic variation database, a reference database of genetic variations in the Japanese population (2016)
  • Tsurusaki Yoshinori ID: 9000333078493

    Articles in CiNii:1

    • De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux (2016)
  • TSURUSAKI Yoshinori ID: 9000005226944

    Laboratory of Endocrinology and Molecular Metabolism, Graduate School of Nutritional Sciences, University of Shizuoka (2001 from CiNii)

    Articles in CiNii:1

    • Suppressive Effect of Endogenous Regucalcin on Guanosine Triphosphatase Activity in Rat Liver Nucleus (2001)
  • TSURUSAKI Yoshinori ID: 9000018654341

    Hirosawa Research Institute of Health Science (2009 from CiNii)

    Articles in CiNii:1

    • Pathologic Background of Abnormal Serum Amyloid A and Interleukin-6 Levels Revealed by a Piecewise Linear Regression Model in the Population of Diabetic Patients (2009)
  • TSURUSAKI Yoshinori ID: 9000107387967

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2012 from CiNii)

    Articles in CiNii:1

    • A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5 (2012)
  • TSURUSAKI Yoshinori ID: 9000256893535

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2013 from CiNii)

    Articles in CiNii:1

    • The diagnostic utility of exome sequencing in Joubert syndrome and related disorders (2013)
  • TSURUSAKI Yoshinori ID: 9000261672888

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2013 from CiNii)

    Articles in CiNii:1

    • Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia (2013)
  • Tsurusaki Yoshinori ID: 9000240056780

    Department of Human Genetics, Yokohama City University, Japan (2013 from CiNii)

    Articles in CiNii:1

    • Identification of a Novel Homozygous <i>SPG7</i> Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia (2013)
  • Tsurusaki Yoshinori ID: 9000309579903

    Articles in CiNii:1

    • Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE. (2015)
  • Tsurusaki Yoshinori ID: 9000336385835

    Articles in CiNii:1

    • The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations (2016)
  • Tsurusaki Yoshinori ID: 9000377395480

    神奈川県立こども医療センター臨床研究所 (2017 from CiNii)

    Articles in CiNii:1

    • Joubert syndrome caused by <i>CSPP1</i> mutation : the first Japanese case (2017)
  • Tsurusaki Yoshinori ID: 9000401560241

    Clinical Research Institute; Kanagawa Children's Medical Center; Yokohama Japan (2017 from CiNii)

    Articles in CiNii:1

    • Coffin-Siris syndrome and cardiac anomaly with a novel SOX 11 mutation:A novel SOX11 mutation (2017)
  • Tsurusaki Yoshinori ID: 9000401560279

    Clinical Research Institute; Kanagawa Children's Medical Center; Yokohama Japan (2017 from CiNii)

    Articles in CiNii:1

    • Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis:Novel AMER1 mutation in OSCS (2017)
  • Tsurusaki Yoshinori ID: 9000401560364

    Clinical Research Institute; Kanagawa Children's Medical Center; Yokohama Japan (2018 from CiNii)

    Articles in CiNii:1

    • Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms:SYNGAP1 variant and dysmorphisms (2018)
  • Tsurusaki Yoshinori ID: 9000403314745

    Clinical Research InstituteKanagawa Children's Medical Center Yokohama Japan (2019 from CiNii)

    Articles in CiNii:1

    • A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12 (2019)
  • Tsurusaki Yoshinori ID: 9000403316563

    Articles in CiNii:1

    • Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation (2014)
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