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1.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37079061
2.
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Genes (Basel)
; 12(5)2021 04 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33925474
3.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Front Genet
; 11: 464, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32457805
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