Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-32321831
2.
Genetic and functional insights into CDA-I prevalence and pathogenesis.
J Med Genet
; 58(3): 185-195, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32518175
3.
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
Inglês
| MEDLINE | ID: mdl-34311670
4.
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
Inglês
| MEDLINE | ID: mdl-30933022
5.
Severe Drug-Induced Hemolysis in a Patient with Compound Heterozygosity for Hb Peterborough (HBB: c.334G>T) and Hb Lepore-Boston-Washington (NG_000007.3: g.63632_71046del).
Hemoglobin
; 43(1): 56-59, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31060398
6.
Hb Penang [ß78(EF2)LeuâPro, HBB: c.236T>C]: a Novel ß-Globin Variant.
Hemoglobin
; 42(3): 199-202, 2018 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30328734
7.
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
Inglês
| MEDLINE | ID: mdl-35661144
8.
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias.
Br J Haematol
; 175(2): 318-330, 2016 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-27432187
9.
Ten Years of Routine α- and ß-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Hemoglobin
; 40(2): 75-84, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-26635043
10.
Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.
Rheumatology (Oxford)
; 59(2): 448-451, 2020 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31377798
11.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet
; 51(6): 419-24, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24706941
12.
RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
medRxiv
; 2023 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36945604
13.
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Dev Cell
; 58(20): 2112-2127.e4, 2023 10 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37586368
14.
The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper.
Hemasphere
; 6(6): e739, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35686139