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1.
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Haematologica
; 109(2): 422-430, 2024 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37584291
2.
Proliferative glomerulonephritis with monoclonal IgG deposits in an adolescent successfully treated with daratumumab.
Pediatr Nephrol
; 2024 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38858270
3.
Severe Acute Kidney Injury in Children as a Rare Complication of Paroxysmal Cold Hemoglobinuria.
J Pediatr Hematol Oncol
; 45(8): e1010-e1013, 2023 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37703450
4.
TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.
Am J Hematol
; 97(3): 338-351, 2022 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34981838
5.
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
Blood Cells Mol Dis
; 81: 102380, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31855845
6.
Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.
Haematologica
; 101(6): 707-16, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27013649
7.
A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature.
Eur J Pediatr
; 175(4): 587-92, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26518681
8.
Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.
BMC Pulm Med
; 15: 8, 2015 Feb 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-25879889
9.
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Br J Haematol
; 165(4): 556-63, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24533562
10.
Augmenting clinical interpretability of thiopurine methyltransferase laboratory evaluation.
Oncology
; 86(3): 152-8, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24643197
11.
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.
Haematologica
; 98(12): 1948-55, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23850805
12.
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
Ital J Pediatr
; 49(1): 11, 2023 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36658659
13.
SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.
Am J Med Genet A
; 158A(10): 2545-50, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22887642
14.
Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.
Blood Cells Mol Dis
; 46(4): 300-1, 2011 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21414820
15.
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.
Pediatr Rheumatol Online J
; 9(1): 27, 2011 Sep 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-21914180
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