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1.
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Hum Mutat
; 41(6): 1091-1111, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32112656
2.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
Kidney Int
; 103(5): 986-989, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37085259
3.
Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.
Clin Kidney J
; 16(4): 722-726, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-37007699
4.
Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study.
BMJ Open
; 12(4): e057829, 2022 04 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35393322
5.
Genetic Determinants of Serum Calcification Propensity and Cardiovascular Outcomes in the General Population.
Front Cardiovasc Med
; 8: 809717, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35097025
6.
Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology.
Front Genet
; 10: 1264, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31921302
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