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1.
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.
J Med Genet
; 2024 May 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38719348
2.
Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A.
Hum Mutat
; 41(4): 825-836, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31898853
3.
Assessment of interleukin-10 promoter variant (-1082A/G) and cytokine production in patients with hemolytic uremic syndrome.
Front Pediatr
; 11: 1210158, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37425258
4.
Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia.
Eur J Hum Genet
; 27(4): 603-611, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30626931
5.
Are int22h-mediated deletions a common cause of hemophilia?
Ann Hematol
; 91(4): 633-6, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21773729
6.
Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
Thromb Haemost
; 109(1): 24-33, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23093250
7.
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.
Thromb Haemost
; 115(3): 678-81, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26489971
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