Detalhe da pesquisa
1.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1301-1317, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34038740
2.
Hematological involvement in pediatric systemic lupus erythematosus: A multi-center study.
Lupus
; 30(12): 1983-1990, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34459313
3.
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
4.
Central nervous system lesions in Fanconi anemia: Experience from a research center for Fanconi anemia patients.
Pediatr Blood Cancer
; 67(12): e28722, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32970355
5.
Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency.
J Pediatr Hematol Oncol
; 42(6): e434-e439, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32324696
6.
Hb H Disease Diagnosed During Adolescent Pregnancy.
Hemoglobin
; 44(2): 137-138, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32400222
7.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Am J Hum Genet
; 108(7): 1356, 2021 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214448
8.
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
J Clin Immunol
; 39(7): 726-738, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31432443
9.
Deferasirox in children with transfusion-dependent thalassemia or sickle cell anemia: A large cohort real-life experience from Turkey (REACH-THEM).
Eur J Haematol
; 102(2): 123-130, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30300449
10.
Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations.
J Pediatr Hematol Oncol
; 41(3): 243-246, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30339652
11.
Comparison of ferrous sulfate, polymaltose complex and iron-zinc in iron deficiency anemia.
Minerva Pediatr
; 71(5): 449-454, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26200522
12.
The clinical and laboratory evaluation of familial hemophagocytic lymphohistiocytosis and the importance of hepatic and spinal cord involvement: a single center experience.
Haematologica
; 103(2): 231-236, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29146706
13.
Comparison of different types of twin pregnancies in terms of obstetric and perinatal outcomes: association of vanished twins with methylenetetrahydrofolate reductase (MTHFR) polymorphism(s).
J Assist Reprod Genet
; 35(12): 2149-2154, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30362058
14.
Assessment of Peripheral Neuropathy in Patients with ß-Thalassemia via Electrophysiological Study: Reevaluation in the Era of Iron Chelators.
Hemoglobin
; 42(2): 113-116, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30200834
15.
Liver transplantation from a deceased donor with ß-thalassemia intermedia is not contraindicated: A case report.
Pediatr Transplant
; 21(3)2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28211259
16.
Human Bocavirus: Can It Trigger Hemophagocytic Lymphohistiocytosis?
J Pediatr Hematol Oncol
; 39(8): e504-e507, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28731923
17.
Heavy metal levels in patients with ineffective erythropoiesis.
Transfus Apher Sci
; 56(4): 539-543, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28818403
18.
The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) ß(0) -thalassaemia homozygotes.
Br J Haematol
; 172(6): 958-65, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26771086
19.
WITHDRAWN: Hematological involvement in pediatric systemic lupus erythematosus: A multi-center study.
Lupus
; 30(10): NP1-NP8, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33951967
20.
Hemophagocytosis in bone marrow aspirates in multisystem inflammatory syndrome in children.
Pediatr Blood Cancer
; 68(6): e28931, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619863