Detalhe da pesquisa
1.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581362
2.
Iron Deficiency in Anemic Children Surviving Critical Illness: Post Hoc Analysis of a Single-Center Prospective Cohort in Canada, 2019-2022.
Pediatr Crit Care Med
; 25(4): 344-353, 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38358779
3.
Significant haemoglobinopathies: A guideline for screening and diagnosis: A British Society for Haematology Guideline: A British Society for Haematology Guideline.
Br J Haematol
; 201(6): 1047-1065, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271570
4.
Interventions for chronic kidney disease in people with sickle cell disease.
Cochrane Database Syst Rev
; 8: CD012380, 2023 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37539955
5.
Single-cell O2 exchange imaging shows that cytoplasmic diffusion is a dominant barrier to efficient gas transport in red blood cells.
Proc Natl Acad Sci U S A
; 117(18): 10067-10078, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321831
6.
Genetic and functional insights into CDA-I prevalence and pathogenesis.
J Med Genet
; 58(3): 185-195, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32518175
7.
Recapitulation of erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I) identifies defects in differentiation and nucleolar abnormalities.
Haematologica
; 106(11): 2960-2970, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33121234
8.
Recommendations for diagnosis and treatment of methemoglobinemia.
Am J Hematol
; 96(12): 1666-1678, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34467556
9.
Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a ß-Thalassemia Major Phenotype.
Hemoglobin
; 45(4): 215-219, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34311670
10.
A Keratin 7 and E-Cadherin Signature Is Highly Predictive of Tubo-Ovarian High-Grade Serous Carcinoma Prognosis.
Int J Mol Sci
; 22(10)2021 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070214
11.
Identification of intraductal carcinoma of the prostate on tissue specimens using Raman micro-spectroscopy: A diagnostic accuracy case-control study with multicohort validation.
PLoS Med
; 17(8): e1003281, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32797086
12.
Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic.
Br J Haematol
; 189(4): 635-639, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32330288
13.
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
14.
The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.
Br J Haematol
; 185(3): 436-449, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836435
15.
Iron overload in inherited anaemias: why one size can't fit all.
Br J Haematol
; 196(2): 266-267, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708402
16.
A quality improvement project for the cost-effective management of maternal anaemia.
Br J Haematol
; 196(2): 445-448, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34462912
17.
Expanded eligibility for emerging therapies in sickle cell disease in the UK - crizanlizumab and voxelotor.
Br J Haematol
; 197(4): 502-504, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35189668
18.
Functional impairment of erythropoiesis in Congenital Dyserythropoietic Anaemia type I arises at the progenitor level.
Br J Haematol
; 198(1): e10-e14, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35417566
19.
The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Br J Haematol
; 198(3): 459-477, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35661144
20.
Interventions for chronic kidney disease in people with sickle cell disease.
Cochrane Database Syst Rev
; 7: CD012380, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28672087