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1.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med;
24(1): 130-145, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906502
2.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Br J Dermatol;
187(6): 1045-1048, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35975634
3.
Germline potential should not be overlooked for cancer variants identified in tumour-only somatic mutation testing.
Pathology;
56(4): 468-472, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38627125
4.
The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.
Genome Med;
15(1): 74, 2023 09 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37723522
5.
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.
Front Oncol;
11: 738822, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34604083
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