Detalhe da pesquisa
1.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Blood
; 141(23): 2853-2866, 2023 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952636
2.
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.
Br J Haematol
; 204(3): 1067-1071, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37984840
3.
Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.
Eur J Haematol
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38600884
4.
A Need for a Novel Survival Risk Scoring System for Intensive Care Admissions Due to Sepsis in Pediatric Hematology/Oncology Patients.
J Intensive Care Med
; 39(5): 484-492, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981801
5.
Symptomatic corpus luteum hemorrhage in adolescent females with ITP.
Eur J Pediatr
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38602530
6.
[GENETIC PANELS FOR THE DIAGNOSIS OF RARE CONGENITAL HEMATOLOGICAL DISORDERS].
Harefuah
; 162(1): 52-56, 2023 Jan.
Artigo
em Hebraico
| MEDLINE | ID: mdl-36714943
7.
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Haematologica
; 107(9): 2081-2095, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35295078
8.
Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis.
Platelets
; 33(4): 645-648, 2022 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130804
9.
Characterization of Fanconi Anemia Patients with Head and Neck Squamous Cell Carcinoma: Israel Fanconi Registry.
Isr Med Assoc J
; 24(8): 491-496, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35971997
10.
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Hum Mol Genet
; 28(1): 133-142, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30247636
11.
Incorporation of somatic panels for the detection of haematopoietic transformation in children and young adults with leukaemia predisposition syndromes and with acquired cytopenias.
Br J Haematol
; 193(3): 570-580, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368157
12.
Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthenia patients.
Blood Cells Mol Dis
; 89: 102560, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33711653
13.
Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome.
Pediatr Blood Cancer
; 68(10): e29138, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019335
14.
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Mol Cell Proteomics
; 18(4): 760-772, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30630937
15.
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
Proc Natl Acad Sci U S A
; 115(20): 5241-5246, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29712865
16.
Splenectomy in childhood for non-malignant haematologic disorders - long-term follow-up shows minimal adverse effects.
Br J Haematol
; 190(6): 909-915, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32342506
17.
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Haematologica
; 105(7): 1825-1834, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31558676
18.
Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.
Pediatr Blood Cancer
; 67(6): e28237, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277798
19.
Essential thrombocythemia A retrospective case series.
Pediatr Blood Cancer
; 67(5): e28183, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124556
20.
Alpha-Thalassemia Carrier due to -α3.7 Deletion: Not So Silent.
Acta Haematol
; 143(5): 432-437, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31935715