Search Results1-20 of  22

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  • NIIDA Yo ID: 9000000373362

    Department of Pediatrics, Graduate School of Medical Science, Faculty of Medicine, Kanazawa University (2005 from CiNii)

    Articles in CiNii:3

    • Novel Fas (CD95/APO-1) mutations in infants with a lymphopro liferative disorder (1998)
    • Expansion of activated eosinophils in infants with severe atopic dermatitis (2005)
    • Diffuse brain damage caused by acute twin-twin transfusion during late pregnancy (1998)
  • NIIDA Yo ID: 9000000857978

    Department of Pediatrics, Faculty of Medicine, Kanazawa University (1999 from CiNii)

    Articles in CiNii:2

    • Microsatellite analysis of childhood leukemia: Correlation of 9p and 12p chromosome abnormalities with expression of related genes (1999)
    • Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein gene (1999)
  • NIIDA Yo ID: 9000006194950

    金沢大学医学部附属病院小児科 金沢大学大学院医学系研究科血管発生発達病態学 (2002 from CiNii)

    Articles in CiNii:1

    • Genetic testing and medical ethics (2002)
  • NIIDA Yo ID: 9000006776907

    Articles in CiNii:1

    • Mutation Analysis of the bruton's Tyrosine Kinase in 2 Families with X-Linked Agammaglobulinemia (1996)
  • NIIDA Yo ID: 9000107387467

    Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University (2012 from CiNii)

    Articles in CiNii:1

    • A case of acute encephalopathy with hemophagocytic lymphohistiocytosis and clonal T-cell expansion (2012)
  • NIIDA Yo ID: 9000238238049

    Research Center for Child Mental Development, Kanazawa University (2012 from CiNii)

    Articles in CiNii:1

    • Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy (2012)
  • NIIDA Yo ID: 9000259328126

    Research Center for Child Mental Development, Kanazawa University (2013 from CiNii)

    Articles in CiNii:1

    • Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported (2013)
  • NIIDA Yo ID: 9000261677810

    Research Center for Child Mental Development, Kanazawa University (2013 from CiNii)

    Articles in CiNii:1

    • Evaluation of screening markers for carnitine-palmitoyltransferase I deficiency using the data of patients found in newborn screening by tandem mass spectrometry (2013)
  • NIIDA Yo ID: 9000283574338

    Division of Human Genetics, Clinical Genetics, Medical Research Institute, Kanazawa Medical University (2013 from CiNii)

    Articles in CiNii:1

    • A Case of Hereditary Angioedema with Blisters (2013)
  • NIIDA Yo ID: 9000364843873

    Research Center for Child Mental Development, Kanazawa University (2009 from CiNii)

    Articles in CiNii:3

    • Rituximab が著効したIgM型抗PS/PT抗体陽性の抗リン脂質抗体症候群の1例 (2007)
    • Top-down management of a newly diagnosed pediatric Crohn's disease with early induction of infliximab combined with azathioprine (2009)
    • A rare case of infantile acute megakaryoblastic leukemia with multiple osteolytic lesions and solid tumor-like swelling in the oral cavity (2004)
  • Niida Yo ID: 9000023629341

    Articles in CiNii:1

    • Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency (1999)
  • Niida Yo ID: 9000024853088

    Articles in CiNii:1

    • Development of a simple and highly sensitive mutation screening system by enzyme mismatch cleavage with optimized conditions for standard laboratories (2008)
  • Niida Yo ID: 9000243754178

    Articles in CiNii:1

    • Intermittent X-linked thrombocytopenia with a novel WAS gene mutation (2014)
  • Niida Yo ID: 9000265264240

    Research Center for Child Mental Development, Kanazawa University (2013 from CiNii)

    Articles in CiNii:1

    • The association of hypocarnitinemia with enteral diets and antiepileptic drugs in children and adults with severe physical and mental disabilities (2013)
  • Niida Yo ID: 9000287287071

    Articles in CiNii:1

    • Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1 (2015)
  • Niida Yo ID: 9000329014148

    Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Ishikawa, Japan (2016 from CiNii)

    Articles in CiNii:1

    • A novel frameshift mutation in the <i>TRPS1</i> gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family (2016)
  • Niida Yo ID: 9000329440986

    Articles in CiNii:1

    • A custom magnetoencephalography device reveals brain connectivity and high reading/decoding ability in children with autism (2013)
  • Niida Yo ID: 9000366134774

    金沢医科大学病院集学的医療部遺伝子医療センター (2017 from CiNii)

    Articles in CiNii:1

    • 2-year-old girl with anti N-methyl-D-aspartate receptor (NMDAR) encephalitis treated by rituximab (2017)
  • Niida Yo ID: 9000401559941

    Division of Genomic Medicine, Department of Advanced Medicine; Kanazawa Medical University; Kahoku Ishikawa Japan (2017 from CiNii)

    Articles in CiNii:1

    • Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report:Cartilage-hair hypoplasia with ileus (2017)
  • Niida Yo ID: 9000401559999

    Division of Clinical Genetics, Multidisciplinary Medical Center; Kanazawa Medical University Hospital; Ishikawa Japan (2017 from CiNii)

    Articles in CiNii:1

    • A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome:SBBYSS and GPS caused by KAT6B mutation (2017)
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