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Bento, Celeste
127  results:
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1

Sickle cell trait in São Tomé e Príncipe: a population-base..:

Queiroz, Guilherme ; Monteiro, Celdidy ; Manco, Licínio...
BMC Public Health.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, Alistair T. ; Camps, Carme ; Giacopuzzi, Edoardo...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLAT..:

Solórzano González, José Martín ; Reidel, Sara Isabel ; Labidi, Ines...
HemaSphere.  7 (2023)  S3 - p. e13208ab , 2023
Link: https://doi.org/10.1097/..
 
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4

Comprehensive in silico and functional studies for classifi..:

Karaghiannis, Valéna ; Maric, Darko ; Garrec, Céline...
Haematologica.  108 (2023)  6 - p. 1652-1666 , 2023
Link: https://doi.org/10.3324/..
 
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5

PB2510: CHARACTERISATION OF SICKLE CELL DISEASE PATIENTS: A..:

Deveza, Maria Manuel ; Da Fonseca, Inês Nogueira ; Monteiro Saunders, Christopher James Ornelas...
HemaSphere.  7 (2023)  S3 - p. e22777fd , 2023
Link: https://doi.org/10.1097/..
 
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6

Sickle cell disease landscape and challenges in the EU: the..:

Mañú Pereira, María del Mar ; Colombatti, Raffaella ; Alvarez, Federico...
The Lancet Haematology.  10 (2023)  8 - p. e687-e694 , 2023
Link: https://doi.org/10.1016/..
 
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7

Novel homozygous nonsense mutation in the P5′N‐1 coding gen..:

Kirschner, Martin ; Heinen, Inga Rebecca ; Koschmieder, Steffen...
Clinical Case Reports.  10 (2022)  3 - p. , 2022
Link: https://doi.org/10.1002/..
 
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8

A Novel Tool for the Analysis and Detection of Copy Number ..:

Minaidou, Anna ; Tamana, Stella ; Stephanou, Coralea...
International Journal of Molecular Sciences.  23 (2022)  24 - p. 15920 , 2022
Link: https://doi.org/10.3390/..
 
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9

Heterogeneidade Molecular da Deficiência em Glicose-6-Fosfa..:

Manco, Licínio ; Bento, Celeste ; Relvas, Luís..
Acta Médica Portuguesa.  , 2022
Link: https://doi.org/10.20344..
 
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10

Evaluation of in silico predictors on short nucleotide vari..:

Xenophontos, Maria ; Tamana, Stella ; Minaidou, Anna...
eLife.  11 (2022)  - p. , 2022
Link: https://doi.org/10.7554/..
 
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11

Variants in the new E1ʹ cryptic exon of the VHL gene associ..:

Rodrigues, Catarina Dantas ; Pombal, Rita ; Pereira, Janet...
eJHaem.  3 (2022)  3 - p. 989-991 , 2022
Link: https://doi.org/10.1002/..
 
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12

Adapting the ACMG/AMP variant classification framework: A p..:

Kountouris, Petros ; Stephanou, Coralea ; Lederer, Carsten W....
Human Mutation.  43 (2021)  8 - p. 1089-1096 , 2021
Link: https://doi.org/10.1002/..
 
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13

A rare cause of cyanosis since birth: Hb M-Iwate:

Mutlu, Birgül ; Yılmaz Keskin, Ebru ; Oliveira, Ana Catarina..
Turkish Journal of Hematology.  , 2019
Link: https://doi.org/10.4274/..
 
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14

Newborn screening for sickle cell disease in Europe: recomm..:

Lobitz, Stephan ; Telfer, Paul ; Cela, Elena...
British Journal of Haematology.  183 (2018)  4 - p. 648-660 , 2018
Link: https://doi.org/10.1111/..
 
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15

Congenital erythrocytosis – discover of a new mutation in t..:

Barradas, João ; Rodrigues, Catarina Dantas ; Ferreira, Gisela...
Clinical Case Reports.  6 (2018)  6 - p. 1109-1111 , 2018
Link: https://doi.org/10.1002/..
 
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