Found: 73
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Rapid progression to pulmonary arterial hypertension crisis associated with mixed connective tissue disease in an 11-year-old girl.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Eponym: Barth syndrome.
- Published in:
- 2011
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- Publication type:
- journal article
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.
- Published in:
- 2011
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- Publication type:
- journal article
Bortezomib combined with standard induction chemotherapy in Japanese children with refractory acute lymphoblastic leukemia.
- Published in:
- 2017
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- Publication type:
- journal article
Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.
- Published in:
- 2012
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- Publication type:
- Report
Frequency of malformed infants in a tertiary center in Hokkaido, Japan over a period of 10 years.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2017, v. 43, n. 3, p. 505, doi. 10.1111/jog.13229
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- Publication type:
- Article
Persistent systemic rotavirus vaccine infection in a child with X‐linked severe combined immunodeficiency.
- Published in:
- Journal of Medical Virology, 2019, v. 91, n. 6, p. 1008, doi. 10.1002/jmv.25410
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- Publication type:
- Article
Mesangial C4d deposition at diagnosis in childhood immunoglobulin A nephropathy.
- Published in:
- Pediatrics International, 2019, v. 61, n. 11, p. 1133, doi. 10.1111/ped.13921
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- Publication type:
- Article
Exchange transfusion in patients with Down syndrome and severe transient leukemia.
- Published in:
- Pediatrics International, 2015, v. 57, n. 4, p. 620, doi. 10.1111/ped.12586
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- Publication type:
- Article
Fusarium falciforme infection in a patient with chronic granulomatous disease: Unique long-term course of epidural abscess.
- Published in:
- Pediatrics International, 2015, v. 57, n. 1, p. e4, doi. 10.1111/ped.12458
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- Publication type:
- Article
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency.
- Published in:
- Pediatrics International, 2011, v. 53, n. 2, p. e16, doi. 10.1111/j.1442-200X.2010.03259.x
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- Publication type:
- Article
Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.
- Published in:
- Pediatrics International, 2008, v. 50, n. 6, p. 806, doi. 10.1111/j.1442-200X.2008.02650.x
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- Publication type:
- Article
Stem cell transplantation in primary immunodeficiency disease patients.
- Published in:
- Pediatrics International, 2007, v. 49, n. 6, p. 795, doi. 10.1111/j.1442-200X.2007.02468.x
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- Publication type:
- Article
Prenatal diagnosis of the Wiskott–Aldrich syndrome by PCR-based methods.
- Published in:
- Pediatrics International, 2001, v. 43, n. 6, p. 716, doi. 10.1046/j.1442-200X.2001.01482.x
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- Publication type:
- Article
Coxiella burnetii lymphadenitis: A possible fever focus in acute Q fever.
- Published in:
- Pediatrics International, 2000, v. 42, n. 6, p. 711, doi. 10.1046/j.1442-200x.2000.01290.x
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- Publication type:
- Article
Membranous Glomerulonephritis in WiskottAldrich syndrome.
- Published in:
- Pediatrics International, 1986, v. 28, n. 2, p. 226, doi. 10.1111/j.1442-200X.1986.tb00721.x
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- Publication type:
- Article
Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 8, p. 577, doi. 10.1038/jhg.2011.61
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- Publication type:
- Article
Induction of NKG2D ligands on human dendritic cells by TLR ligand stimulation and RNA virus infection.
- Published in:
- International Immunology, 2007, v. 19, n. 10, p. 1145, doi. 10.1093/intimm/dxm073
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- Publication type:
- Article
Effect of Ag Content and the Minor Alloying Element Fe on the Mechanical Properties and Microstructural Stability of Sn-Ag-Cu Solder Alloy Under High-Temperature Annealing.
- Published in:
- Journal of Electronic Materials, 2013, v. 42, n. 3, p. 470, doi. 10.1007/s11664-012-2343-8
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- Publication type:
- Article
Development of Graves' disease during drug-free remission of juvenile dermatomyositis.
- Published in:
- Modern Rheumatology Case Reports, 2022, v. 6, n. 1, p. 55, doi. 10.1093/mrcr/rxab006
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- Publication type:
- Article
Coexistence of acute poststreptococcal glomerulonephritis and acute rheumatic fever in a Japanese girl with primary Sjögren's syndrome.
- Published in:
- 2020
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- Publication type:
- Case Study
Evaluation of a Novel Immunochromatographic Assay for Detection of Human Adenoviruses from Throat Swab Samples Compared with Real-time PCR.
- Published in:
- Clinical Laboratory, 2018, v. 64, n. 10, p. 1777, doi. 10.7754/Clin.Lab.2018.180420
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- Publication type:
- Article
Graft-versus-host disease ( GVHD) prophylaxis by using methotrexate decreases pre-engraftment syndrome and severe acute GVHD, and accelerates engraftment after cord blood transplantation.
- Published in:
- Pediatric Transplantation, 2016, v. 20, n. 1, p. 114, doi. 10.1111/petr.12621
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- Publication type:
- Article
Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome.
- Published in:
- Pediatric Transplantation, 2014, v. 18, n. 1, p. E25, doi. 10.1111/petr.12184
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- Publication type:
- Article
Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency.
- Published in:
- Pediatric Transplantation, 2013, v. 17, n. 1, p. E29, doi. 10.1111/j.1399-3046.2012.01762.x
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- Publication type:
- Article
Changes in bone turnover markers after discontinuing long-term glucocorticoid administration in children with idiopathic nephrotic syndrome: a multicenter retrospective observational study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 10, p. 3285, doi. 10.1007/s00467-023-05966-2
- By:
- Publication type:
- Article
De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family.
- Published in:
- European Journal of Oral Sciences, 2009, v. 117, n. 6, p. 691, doi. 10.1111/j.1600-0722.2009.00683.x
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- Publication type:
- Article
Detection of human herpesvirus 8 DNA sequences in peripheral blood mononuclear cells of children.
- Published in:
- Journal of Medical Virology, 1997, v. 53, n. 1, p. 81, doi. 10.1002/(SICI)1096-9071(199709)53:1<81::AID-JMV14>3.0.CO;2-#
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- Publication type:
- Article
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
- Published in:
- Nature, 2007, v. 448, n. 7157, p. 1058, doi. 10.1038/nature06096
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- Publication type:
- Article
Investigation on Strength and Microstructural Evolution of Porous Cu/Cu Brazed Joints Using Cu-Ni-Sn-P Filler.
- Published in:
- Metals (2075-4701), 2020, v. 10, n. 3, p. 416, doi. 10.3390/met10030416
- By:
- Publication type:
- Article
Utilization of a Porous Cu Interlayer for the Enhancement of Pb-Free Sn-3.0Ag-0.5Cu Solder Joint.
- Published in:
- Metals (2075-4701), 2016, v. 6, n. 9, p. 220, doi. 10.3390/met6090220
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- Publication type:
- Article
Possible application of flow cytometry for evaluation of the structure and functional status of WASP in peripheral blood mononuclear cells.
- Published in:
- European Journal of Haematology, 2009, v. 82, n. 3, p. 223, doi. 10.1111/j.1600-0609.2008.01180.x
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- Publication type:
- Article
Detection of KI polyomavirus and WU polyomavirus DNA by real-time polymerase chain reaction in nasopharyngeal swabs and in normal lung and lung adenocarcinoma tissues.
- Published in:
- Microbiology & Immunology, 2011, v. 55, n. 7, p. 525, doi. 10.1111/j.1348-0421.2011.00346.x
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- Publication type:
- Article
Influence of porous Cu interlayer on the intermetallic compound layer and shear strength of MWCNT-reinforced SAC 305 composite solder joints.
- Published in:
- Journal of Materials Science: Materials in Electronics, 2021, v. 32, n. 4, p. 4515, doi. 10.1007/s10854-020-05194-6
- By:
- Publication type:
- Article
Microstructure and mechanical properties of micro-resistance spot welding between stainless steel 316L and Ti-6Al-4V.
- Published in:
- International Journal of Advanced Manufacturing Technology, 2018, v. 96, n. 5-8, p. 2567, doi. 10.1007/s00170-018-1688-4
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- Publication type:
- Article
Influence of BA4047 filler addition through Mamdani fuzzy logic optimization for double-sided T-joint welding of aluminum alloys using low-power fiber laser.
- Published in:
- International Journal of Advanced Manufacturing Technology, 2017, v. 93, n. 5-8, p. 2133, doi. 10.1007/s00170-017-0695-1
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- Publication type:
- Article
Effect of brazing temperature on the shear strength of Inconel 600 joint.
- Published in:
- International Journal of Advanced Manufacturing Technology, 2014, v. 73, n. 5-8, p. 1133, doi. 10.1007/s00170-014-5900-x
- By:
- Publication type:
- Article
Molecular genetic studies of two families with X-linked chronic granulomatous disease: Mutation analysis and definitive determination of carrier status in patients' sisters.
- Published in:
- European Journal of Haematology, 1994, v. 52, n. 2, p. 99, doi. 10.1111/j.1600-0609.1994.tb01293.x
- By:
- Publication type:
- Article
Low T Cell Numbers Resembling T−B+ SCID in a Patient with Wiskott-Aldrich Syndrome and the Outcome of Two Hematopoietic Stem Cell Transplantations.
- Published in:
- 2017
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- Publication type:
- Letter
Monocyte/macrophage-Specific NADPH Oxidase Contributes to Antimicrobial Host Defense in X-CGD.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 2, p. 158, doi. 10.1007/s10875-015-0138-4
- By:
- Publication type:
- Article
Erratum to: Efficacy and Safety of IgPro20, a Subcutaneous Immunoglobulin, in Japanese Patients with Primary Immunodeficiency Diseases.
- Published in:
- 2014
- By:
- Publication type:
- Erratum
Efficacy and Safety of IgPro20, a Subcutaneous Immunoglobulin, in Japanese Patients with Primary Immunodeficiency Diseases.
- Published in:
- Journal of Clinical Immunology, 2014, v. 34, n. 2, p. 204, doi. 10.1007/s10875-013-9985-z
- By:
- Publication type:
- Article
Nationwide Survey of Patients with Primary Immunodeficiency Diseases in Japan.
- Published in:
- Journal of Clinical Immunology, 2011, v. 31, n. 6, p. 968, doi. 10.1007/s10875-011-9594-7
- By:
- Publication type:
- Article
Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study.
- Published in:
- Immunity, Inflammation & Disease, 2023, v. 11, n. 7, p. 1, doi. 10.1002/iid3.917
- By:
- Publication type:
- Article
Glucose metabolism disorders in children with refractory nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 4, p. 649, doi. 10.1007/s00467-019-04360-1
- By:
- Publication type:
- Article
Periodically repeated rituximab administrations in children with refractory nephrotic syndrome: 2-year multicenter observational study.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 1, p. 87, doi. 10.1007/s00467-018-4063-7
- By:
- Publication type:
- Article
Open-cell copper foam joining: joint strength and interfacial behaviour.
- Published in:
- Materials Science & Technology, 2019, v. 35, n. 16, p. 2004, doi. 10.1080/02670836.2019.1661649
- By:
- Publication type:
- Article
Meiosis error and subsequent genetic and epigenetic alterations invoke the malignant transformation of germ cell tumor.
- Published in:
- Genes, Chromosomes & Cancer, 2013, v. 52, n. 3, p. 274, doi. 10.1002/gcc.22027
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- Publication type:
- Article
Two candidate tumor suppressor genes, MEOX2 and SOSTDC1, identified in a 7p21 homozygous deletion region in a Wilms tumor.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 12, p. 1037, doi. 10.1002/gcc.20705
- By:
- Publication type:
- Article
Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene.
- Published in:
- Clinical & Experimental Nephrology, 2019, v. 23, n. 5, p. 669, doi. 10.1007/s10157-018-1682-z
- By:
- Publication type:
- Article