Suchergebnisse - "Rodríguez-Nóvoa, Sonia"

PubPharm (101)

1

Prognostic Impact of Dihydropyrimidine Dehydrogenase Germline Variants in Unresectable Non-Small Cell Lung Cancer Patients Treated with Platin-Based Chemotherapy

enthalten in: International journal of molecular sciences | 2023

von Guijarro-Eguinoa, J. | Arjona-Hernandez, S. | Stewart, S. | +13

2

Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients

enthalten in: International journal of molecular sciences | 2023

von Rodríguez-Jiménez, C. | de la Peña, G. | Sanguino, J. | +7

3

Advancing pharmacogenetic testing in a tertiary hospital : a retrospective analysis after 10 years of activity

enthalten in: Frontiers in pharmacology | 2023

von Stewart, S. | Dodero-Anillo, J. | Guijarro-Eguinoa, J. | +10

4

Analytical validation of a laboratory-development multigene pharmacogenetic assay

enthalten in: Pharmacogenetics and genomics | 2021

von Rosas-Alonso, R. | Queiruga, J. | Arias, P. | +6

5

Familial hypercholesterolemia: a single-nucleotide variant (SNV) in mosaic at the Low density lipoprotein receptor (LDLR)

enthalten in: bioRxiv.org | 2020

von Rodríguez-Nóvoa, S. | Alonso, C. | Rodríguez-Jiménez, C. | +4

6

Familial hypercholesterolemia : A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR)

enthalten in: Atherosclerosis | 2020

von Rodríguez-Nóvoa, S. | Rodríguez-Jiménez, C. | Alonso, C. | +4

7

Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia : A case report

enthalten in: Medicine | 2020

von Bayona, A. | Arrieta, F. | Rodríguez-Jiménez, C. | +5

8

Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia

enthalten in: Human mutation | 2019

von Rodríguez-Jiménez, C. | Pernía, O. | Mostaza, J. | +14

9

A new variant (c.1A>G) in LDLRAP1 causing autosomal recessive hypercholesterolemia : Characterization of the defect and response to PCSK9 inhibition

enthalten in: Atherosclerosis | 2019

von Rodríguez-Jiménez, C. | Gómez-Coronado, D. | Frías Vargas, M. | +7

CommentIn: Atherosclerosis. 2019 May;284:209-211. - PMID 30862376

10

Functional analysis of new variants at the low‐density lipoprotein receptor associated with familial hypercholesterolemia

enthalten in: Human mutation | 2019

von Rodríguez‐Jiménez, C. | Pernía, O. | Mostaza, J. | +14

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