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Page 1
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Int J Mol Sci. 2023 Jun 9;24(12):9935. doi: 10.3390/ijms24129935.
Int J Mol Sci. 2023.
PMID: 37373084
Free PMC article.
Haemochromatosis patients' research priorities: Towards an improved quality of life.
Romero-Cortadellas L, Venturi V, Martín-Sánchez JC, Toska K, Prince D, Butzeck B, Porto G, Milman NT, Committee HS, Sánchez M.
Romero-Cortadellas L, et al.
Health Expect. 2023 Dec;26(6):2293-2301. doi: 10.1111/hex.13830. Epub 2023 Jul 28.
Health Expect. 2023.
PMID: 37503783
Free PMC article.
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Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.
Hernández G, Romero-Cortadellas L, Ferrer-Cortès X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, González-Fernández FA, Morado M, Kalfa TA, Quintana-Bustamante O, Pérez-Montero S, Tornador C, Segovia JC, Sánchez M.
Hernández G, et al. Among authors: romero cortadellas l.
Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277.
Haematologica. 2023.
PMID: 36200420
Free PMC article.
No abstract available.
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Absence of p.R50X Pygm read-through in McArdle disease cellular models.
Tarrasó G, Real-Martinez A, Parés M, Romero-Cortadellas L, Puigros L, Moya L, de Luna N, Brull A, Martín MA, Arenas J, Lucia A, Andreu AL, Barquinero J, Vissing J, Krag TO, Pinós T.
Tarrasó G, et al. Among authors: romero cortadellas l.
Dis Model Mech. 2020 Jan 13;13(1):dmm043281. doi: 10.1242/dmm.043281.
Dis Model Mech. 2020.
PMID: 31848135
Free PMC article.
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New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.
Romero-Cortadellas L, Hernández G, Ferrer-Cortès X, Zalba-Jadraque L, Fuster JL, Bermúdez-Cortés M, Galera-Miñarro AM, Pérez-Montero S, Tornador C, Sánchez M.
Romero-Cortadellas L, et al.
Int J Mol Sci. 2022 Apr 15;23(8):4406. doi: 10.3390/ijms23084406.
Int J Mol Sci. 2022.
PMID: 35457224
Free PMC article.
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