Found: 28
Select item for more details and to access through your institution.
Bacterial Meningitis Caused by Haemophilus influenzae Type F Diagnosed Using Next-Generation Sequencing.
- Published in:
- 2024
- By:
- Publication type:
- Letter
A deep intronic BTK variant underlies X-linked agammaglobulinemia.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01694-w
- By:
- Publication type:
- Article
Outcomes following induction failure in Japanese children with acute lymphoblastic leukemia.
- Published in:
- International Journal of Hematology, 2023, v. 118, n. 1, p. 99, doi. 10.1007/s12185-023-03600-3
- By:
- Publication type:
- Article
Neonatal intestinal obstruction in Hoyeraal–Hreidarsson syndrome with novel RTEL1 variants.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 6, p. 1, doi. 10.1002/pbc.30250
- By:
- Publication type:
- Article
Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome.
- Published in:
- International Journal of Hematology, 2023, v. 117, n. 4, p. 598, doi. 10.1007/s12185-022-03505-7
- By:
- Publication type:
- Article
A case of suspected lupus anticoagulant‐hypoprothrombinemia syndrome in a boy due to mycoplasma infection.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Clofarabine monotherapy in two patients with refractory Langerhans cell histiocytosis.
- Published in:
- Cancer Reports, 2022, v. 5, n. 8, p. 1, doi. 10.1002/cnr2.1579
- By:
- Publication type:
- Article
The incidence of symptomatic osteonecrosis is similar between Japanese children and children in Western countries with acute lymphoblastic leukaemia treated with a Berlin‐Frankfurt‐Münster (BFM)95‐based protocol.
- Published in:
- British Journal of Haematology, 2022, v. 196, n. 5, p. 1257, doi. 10.1111/bjh.17988
- By:
- Publication type:
- Article
Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline mutation in the TSC2 gene and a somatic mutation in the TP53 gene.
- Published in:
- 2021
- By:
- Publication type:
- case study
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.677572
- By:
- Publication type:
- Article
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 125, doi. 10.1007/s10875-020-00885-5
- By:
- Publication type:
- Article
Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1065, doi. 10.1007/s10875-020-00847-x
- By:
- Publication type:
- Article
Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation.
- Published in:
- International Journal of Hematology, 2020, v. 112, n. 2, p. 258, doi. 10.1007/s12185-020-02860-7
- By:
- Publication type:
- Article
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Deficiency of Interleukin-1 Receptor Antagonist: A Case with Late Onset Severe Inflammatory Arthritis, Nail Psoriasis with Onychomycosis and Well Responsive to Adalimumab Therapy.
- Published in:
- Case Reports in Immunology, 2019, p. 1, doi. 10.1155/2019/1902817
- By:
- Publication type:
- Article
Successful treatment of ETV6‐NTRK3 fusion gene‐negative infantile fibrosarcoma with metastatic lesion resistant to VAC chemotherapy.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.
- Published in:
- 2016
- By:
- Publication type:
- case study
Somatic BRAF c.1799T>A p.V600E Mosaicism Syndrome Characterized by a Linear Syringocystadenoma Papilliferum, Anaplastic Astrocytoma, and Ocular Abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 189, doi. 10.1002/ajmg.a.37376
- By:
- Publication type:
- Article
Unilateral Phrenic Nerve Plasy: A Rare Manifestation of Vincristine Neurotoxicity: Correspondence.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Mesenchymal chondrosarcoma diagnosed on FISH for HEY1-NCOA 2 fusion gene.
- Published in:
- Pediatrics International, 2014, v. 56, n. 5, p. e55, doi. 10.1111/ped.12407
- By:
- Publication type:
- Article
IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.
- Published in:
- Cancer Science, 2014, v. 105, n. 3, p. 359, doi. 10.1111/cas.12337
- By:
- Publication type:
- Article
A case series of CAEBV of children and young adults treated with reduced-intensity conditioning and allogeneic bone marrow transplantation: a single-center study.
- Published in:
- European Journal of Haematology, 2013, v. 91, n. 3, p. 242, doi. 10.1111/ejh.12151
- By:
- Publication type:
- Article
Successful treatment with rituximab of an infant with refractory autoimmune hemolytic anemia.
- Published in:
- 2013
- By:
- Publication type:
- Report
Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 7, p. 953, doi. 10.1007/s00431-013-1977-8
- By:
- Publication type:
- Article
Development of a Multi-Step Leukemogenesis Model of MLL-Rearranged Leukemia Using Humanized Mice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. e37892, doi. 10.1371/journal.pone.0037892
- By:
- Publication type:
- Article