Detalhe da pesquisa
1.
Utility of CYP2D6 copy number variants as prognostic biomarker in localized anal squamous cell carcinoma.
Cancer
; 129(16): 2581-2592, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37096763
2.
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Clin Genet
; 97(3): 467-476, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31972898
3.
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Clin Genet
; 95(6): 726-731, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628072
4.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897170
5.
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Am J Med Genet A
; 173(3): 601-610, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28127875
6.
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
Am J Med Genet A
; 170(10): 2740-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480579
7.
Synergistic effect of antimetabolic and chemotherapy drugs in triple-negative breast cancer.
Biomed Pharmacother
; 149: 112844, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35339109
8.
Experience of a Strategy Including CYP2C19 Preemptive Genotyping Followed by Therapeutic Drug Monitoring of Voriconazole in Patients Undergoing Allogenic Hematopoietic Stem Cell Transplantation.
Front Pharmacol
; 12: 717932, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34744712
9.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Eur J Hum Genet
; 28(4): 469-479, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31685998
10.
Prediction models for voriconazole pharmacokinetics based on pharmacogenetics: AN exploratory study in a Spanish population.
Int J Antimicrob Agents
; 54(4): 463-470, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31279853
11.
Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.
Clin Transl Sci
; 11(2): 189-199, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193749
12.
Molecular characterization of breast cancer cell response to metabolic drugs.
Oncotarget
; 9(11): 9645-9660, 2018 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29515760