Found: 132
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Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 11, p. 1475, doi. 10.1007/s00431-013-2065-9
- By:
- Publication type:
- Article
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Hepatitis-associated aplastic anemia during a primary infection of genotype 1a torque teno virus.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Fulminant sepsis/meningitis due to Haemophilus influenzae in a protein C-deficient heterozygote treated with activated protein C therapy.
- Published in:
- 2009
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- Publication type:
- journal article
Disseminated Bacillus Calmette-Guérin lymphadenitis in a patient with gp91phox- chronic granulomatous disease 25 years after vaccination.
- Published in:
- 2009
- By:
- Publication type:
- journal article
A novel CIAS1mutation in a Japanese patient with chronic infantile neurological cutaneous and articular syndrome.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.
- Published in:
- 2005
- By:
- Publication type:
- journal article
A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma.
- Published in:
- Japanese Journal of Clinical Oncology, 2023, v. 53, n. 9, p. 863, doi. 10.1093/jjco/hyad064
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- Publication type:
- Article
Gastrointestinal bleeding/ulcer among paediatric cancer patients after proton beam therapy.
- Published in:
- Japanese Journal of Clinical Oncology, 2023, v. 53, n. 6, p. 501, doi. 10.1093/jjco/hyad024
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- Publication type:
- Article
An Elevation of Serum Ferritin Level Might Increase Clinical Risk for the Persistence of Patent Ductus Arteriosus, Sepsis and Bronchopulmonary Dysplasia in Erythropoietin-Treated Very-Low-Birth-Weight Infants.
- Published in:
- Neonatology (16617800), 2016, v. 111, n. 1, p. 68, doi. 10.1159/000447991
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- Publication type:
- Article
Wiskott-Aldrich Syndrome in a Girl Caused by Heterozygous WASP Mutation and Extremely Skewed X-Chromosome Inactivation: A Novel Association with Maternal Uniparental Isodisomy 6.
- Published in:
- Neonatology (16617800), 2015, v. 107, n. 3, p. 185, doi. 10.1159/000370059
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- Publication type:
- Article
Mutations in Bruton's tyrosine kinase impair IgA responses.
- Published in:
- International Journal of Hematology, 2015, v. 101, n. 3, p. 305, doi. 10.1007/s12185-015-1732-1
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- Publication type:
- Article
B-cell function after unrelated umbilical cord blood transplantation using a minimal-intensity conditioning regimen in patients with X-SCID.
- Published in:
- International Journal of Hematology, 2013, v. 98, n. 3, p. 355, doi. 10.1007/s12185-013-1408-7
- By:
- Publication type:
- Article
Successful unrelated cord blood transplantation for Epstein-Barr virus-associated lymphoproliferative disease with hemophagocytic syndrome.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Dominant beta-thalassemia with hemoglobin Hradec Kralove: enhanced hemolysis in the spleen.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Dominant expression of interleukin?10 and transforming growth factor?? genes in activated T?cells of chronic active epstein–barr virus infection.
- Published in:
- Journal of Medical Virology, 2004, v. 74, n. 3, p. 449
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- Publication type:
- Article
Acute exacerbation of pulmonary arterial hypertension after COVID‐19 vaccination.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Massive thrombosis in internal jugular phlebectasia in Menkes disease.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Resuscitation of a full‐term infant born with pulseless electrical activity.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Recovery of lymphocyte subpopulations is incomplete in the long-term setting in pediatric solid tumor survivors.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15257
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- Publication type:
- Article
Usefulness of abdominal ultrasound for the diagnosis and follow-up of gastric accessory pancreas in a child.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15066
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- Publication type:
- Article
A neonate diagnosed with Noonan syndrome with myeloproliferative change.
- Published in:
- Pediatrics International, 2021, v. 63, n. 12, p. 1521, doi. 10.1111/ped.14634
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- Publication type:
- Article
A case of omalizumab‐associated eosinophilic granulomatosis with polyangiitis.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Severe adenovirus type F enteritis in a young child with acute myeloid leukemia.
- Published in:
- Pediatrics International, 2021, v. 63, n. 5, p. 604, doi. 10.1111/ped.14461
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- Publication type:
- Article
Nationwide survey of late‐onset hemolysis in very low birthweight infants.
- Published in:
- Pediatrics International, 2021, v. 63, n. 2, p. 172, doi. 10.1111/ped.14493
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- Publication type:
- Article
A case of cardiac tamponade without cardiac tumor in pediatric lymphoma.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Idiopathic disseminated bacillus Calmette- Guerin infection in three infants.
- Published in:
- Pediatrics International, 2015, v. 57, n. 4, p. 750, doi. 10.1111/ped.12623
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- Publication type:
- Article
Development of Kawasaki disease in a patient with PFAPA.
- Published in:
- Pediatrics International, 2013, v. 55, n. 6, p. 801, doi. 10.1111/ped.12225
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- Publication type:
- Article
Primary immunodeficiency in Japan; epidemiology, diagnosis, and pathogenesis.
- Published in:
- Pediatrics International, 2013, v. 55, n. 6, p. 671, doi. 10.1111/ped.12224
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- Publication type:
- Article
Incomplete Kawasaki disease in a patient with chronic granulomatous disease.
- Published in:
- Pediatrics International, 2010, v. 52, n. 3, p. e134, doi. 10.1111/j.1442-200X.2010.03059.x
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- Publication type:
- Article
Neonatal alloimmune thrombocytopenia associated with anti-human platelet antigen-3a antibody.
- Published in:
- Pediatrics International, 1997, v. 39, n. 3, p. 371, doi. 10.1111/j.1442-200X.1997.tb03757.x
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- Publication type:
- Article
Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1020362
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- Publication type:
- Article
Creating Awareness for Primary Immunodeficiencies in Japan.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.803459
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- Publication type:
- Article
MOB1 regulates thymocyte egress and T‐cell survival in mice in a YAP1‐independent manner.
- Published in:
- Genes to Cells, 2019, v. 24, n. 7, p. 485, doi. 10.1111/gtc.12704
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- Publication type:
- Article
Effectiveness of ultrasound-guided peripheral arterial cannulation in neonates, including very low birth weight infants who are conventionally difficult-to-cannulate: a case series.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 1, p. 509, doi. 10.1007/s00431-023-05320-6
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- Publication type:
- Article
Erratum to: Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis.
- Published in:
- 2015
- By:
- Publication type:
- corrected article
Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63575
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- Publication type:
- Article
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1113, doi. 10.1002/ajmg.a.62084
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- Publication type:
- Article
Genetic Basis of Patients with Bacille Calmette-Guérin Osteomyelitis in Japan: Identification of Dominant Partial Interferon-g Receptor 1 Deficiency as a Predominant Type.
- Published in:
- Journal of Infectious Diseases, 2002, v. 185, n. 5, p. 706, doi. 10.1086/339011
- By:
- Publication type:
- Article
Epstein-Barr Virus (EBV) Load and Cytokine Gene Expression in Activated T Cells of Chronic Active EBV Infection.
- Published in:
- Journal of Infectious Diseases, 2001, v. 183, n. 1, p. 1, doi. 10.1086/317653
- By:
- Publication type:
- Article
Human CD3?, but not CD3d, haploinsufficiency differentially impairs ?d versus aß surface TCR expression.
- Published in:
- BMC Immunology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2172-14-3
- By:
- Publication type:
- Article
Epstein‐Barr virus‐associated bronchial leiomyoma in a boy with cellular immunodeficiency.
- Published in:
- Pediatric Pulmonology, 2006, v. 41, n. 4, p. 371, doi. 10.1002/ppul.20375
- By:
- Publication type:
- Article
Bronchiolitis obliterans organizing pneumonia as an initial manifestation in systemic lupus erythematosus.
- Published in:
- Pediatric Pulmonology, 2005, v. 40, n. 3, p. 257, doi. 10.1002/ppul.20224
- By:
- Publication type:
- Article
Longitudinal health-related quality of life analysis in childhood cancer survivors after proton beam therapy.
- Published in:
- International Journal of Clinical Oncology, 2023, v. 28, n. 7, p. 928, doi. 10.1007/s10147-023-02353-7
- By:
- Publication type:
- Article
Progressive vascular calcification in autoimmune polyglandular syndrome type I.
- Published in:
- Pediatric Radiology, 2001, v. 31, n. 3, p. 213, doi. 10.1007/s002470000403
- By:
- Publication type:
- Article
Corrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.
- Published in:
- Scientific Reports, 2016, p. 27164, doi. 10.1038/srep27164
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- Publication type:
- Article
Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.
- Published in:
- Scientific Reports, 2016, p. 22991, doi. 10.1038/srep22991
- By:
- Publication type:
- Article
Proton beam therapy with concurrent chemotherapy is feasible in children with newly diagnosed rhabdomyosarcoma.
- Published in:
- Reports of Practical Oncology & Radiotherapy, 2021, v. 26, n. 4, p. 616, doi. 10.5603/RPOR.a2021.0082
- By:
- Publication type:
- Article