Daiei Kojima - Publications

Identification of a novel missense variant in the AVP gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: September 24, 2024

TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.

Journal: Journal of clinical immunology

Published: May 02, 2022

Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas.

Journal: NPJ genomic medicine

Published: September 09, 2020

Ureteral dilatation detected in magnetic resonance imaging predicts vesicoureteral reflux in children with urinary tract infection.

Journal: PloS one

Published: July 26, 2018

Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.

Journal: The British journal of dermatology

Published: June 01, 2018

Integration Mapping of piggyBac-Mediated CD19 Chimeric Antigen Receptor T Cells Analyzed by Novel Tagmentation-Assisted PCR.

Journal: EBioMedicine

Published: May 23, 2018

An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.

Journal: Journal of dermatological science

Published: November 21, 2017

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.

Journal: The Journal of allergy and clinical immunology

Published: June 05, 2017

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

Journal: The Journal of investigative dermatology

Published: May 20, 2017

Recurrent MYB rearrangement in blastic plasmacytoid dendritic cell neoplasm.

Journal: Leukemia

Published: March 28, 2017

Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity of MYH9 variants.

Journal: Annals of hematology

Published: February 01, 2017

Development of clinical paroxysmal nocturnal haemoglobinuria in children with aplastic anaemia.

Journal: British journal of haematology

Published: January 30, 2017