Detalhe da pesquisa
1.
Comprehensive Analysis of Hypermutation in Human Cancer.
Cell
; 171(5): 1042-1056.e10, 2017 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29056344
2.
Effects of COVID-19 on Pediatric Cancer Care: A Multicenter Study of 11 Middle Eastern Countries.
J Pediatr Hematol Oncol
; 45(1): e87-e91, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36219708
3.
How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist.
Pediatr Hematol Oncol
; 40(2): 131-146, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913104
4.
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Hum Mutat
; 42(11): 1367-1383, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298585
5.
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.
J Pediatr Hematol Oncol
; 43(5): e727-e735, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32947577
6.
Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
Acta Neuropathol
; 140(5): 765-776, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32895736
7.
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
Haematologica
; 105(3): 829-837, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273093
8.
A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment.
J Pediatr Hematol Oncol
; 42(4): e235-e237, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933022
9.
Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome.
J Allergy Clin Immunol
; 144(3): 825-838, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926529
10.
Establishment of a formal program for retinoblastoma: Feasibility of clinical coordination across borders and impact on outcome.
Pediatr Blood Cancer
; 66(11): e27959, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31423715
11.
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Haematologica
; 103(12): 2008-2015, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30026338
12.
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
Am J Gastroenterol
; 111(2): 275-84, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26729549
13.
Spontaneous epidural hematoma in a child with inherited factor XIII deficiency.
J Pediatr Hematol Oncol
; 36(1): 62-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23619114
14.
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.
Lancet Haematol
; 11(5): e368-e382, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697731
15.
Pandemic (H1N1) 2009 influenza in pediatric hematology/oncology units in Lebanon.
J Pediatr Hematol Oncol
; 35(2): 144-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23274382
16.
Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset.
J Clin Oncol
; 41(4): 766-777, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240479
17.
COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia.
Respir Med Case Rep
; 34: 101543, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34777989
18.
Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.
J Clin Oncol
; 39(25): 2779-2790, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33945292
19.
Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis.
Br J Haematol
; 168(3): 452-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25179859
20.
Immune thrombocytopenic purpura associated with brucellosis. Case report and review of the literature.
J Med Liban
; 58(4): 241-3, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21409948