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1.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood
; 143(15): 1476-1487, 2024 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38194689
2.
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
J Allergy Clin Immunol
; 152(3): 771-782, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37150360
3.
Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child-Diagnostic and Treatment Struggle.
Int J Mol Sci
; 24(19)2023 Sep 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-37833906
4.
Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.
Hum Mutat
; 43(12): 1852-1855, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36054331
5.
Relative expansion of CD19-negative very-early normal B-cell precursors in children with acute lymphoblastic leukaemia after CD19 targeting by blinatumomab and CAR-T cell therapy: implications for flow cytometric detection of minimal residual disease.
Br J Haematol
; 193(3): 602-612, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33715150
6.
Risk Factors for and the Clinical Impact of Cytomegalovirus and Epstein-Barr Virus Infections in Pediatric Recipients of TCR-α/ß- and CD19-Depleted Grafts.
Biol Blood Marrow Transplant
; 23(3): 483-490, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28039080
7.
Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations.
Haematologica
; 107(10): 2511-2516, 2022 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35796010
8.
Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.
Orphanet J Rare Dis
; 18(1): 74, 2023 04 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37041648
9.
Vemurafenib combined with cladribine and cytarabine results in durable remission of pediatric BRAF V600E-positive LCH.
Blood Adv
; 7(18): 5246-5257, 2023 09 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37216396
10.
Efficacy of combined immunosuppression with or without eltrombopag in children with newly diagnosed aplastic anemia.
Blood Adv
; 7(6): 953-962, 2023 03 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-35446936
11.
Single Center Experience With Pediatric Patients With GATA2 Deficiency.
Front Pediatr
; 10: 801810, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35273927
12.
Vemurafenib provides a rapid and robust clinical response in pediatric Langerhans cell histiocytosis with the BRAF V600E mutation but does not eliminate low-level minimal residual disease per ddPCR using cell-free circulating DNA.
Int J Hematol
; 114(6): 725-734, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34383272
13.
Chimerism evaluation in measurable residual disease-suspected cells isolated by flow cell sorting as a reliable tool for measurable residual disease verification in acute leukemia patients after allogeneic hematopoietic stem cell transplantation.
Cytometry B Clin Cytom
; 100(5): 568-573, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33369016
14.
Unique Combination of Diamond-Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report.
Front Oncol
; 11: 652696, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33937060
15.
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.
Front Immunol
; 11: 900, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32655540
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