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1.
Clinical relevance of double heterozygosity revealed by next-generation sequencing of homologous recombination repair pathway genes in South African breast cancer patients.
Breast Cancer Res Treat
; 2024 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38814507
2.
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.
BMC Med Genet
; 21(1): 124, 2020 06 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32503528
3.
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
BMC Med Genet
; 18(1): 26, 2017 Mar 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-28292286
4.
Genomic medicine and risk prediction across the disease spectrum.
Crit Rev Clin Lab Sci
; 52(3): 120-37, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25597499
5.
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Front Immunol
; 12: 665621, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34093558
6.
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.
Front Immunol
; 8: 1624, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-29230214
7.
Implementation of a breast cancer genetic service in South Africa - lessons learned.
S Afr Med J
; 103(8): 529-33, 2013 Jun 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-23885733
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