Detalhe da pesquisa
1.
Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii).
Mol Genet Metab
; 139(3): 107628, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354891
2.
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
Am J Med Genet A
; 182(11): 2501-2507, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869452
3.
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.
Hum Mol Genet
; 26(1): 33-43, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28013292
4.
An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Am J Med Genet A
; 179(12): 2357-2364, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512387
5.
Ondansetron blocks wild-type and p.F503L variant small-conductance Ca2+-activated K+ channels.
Am J Physiol Heart Circ Physiol
; 315(2): H375-H388, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29677462
6.
Spontaneous mutations in the flhD operon generate motility heterogeneity in Escherichia coli biofilm.
BMC Microbiol
; 16(1): 262, 2016 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27821046
7.
Computational pharmacogenotype extraction from clinical next-generation sequencing.
Front Oncol
; 13: 1199741, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37469403
8.
Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project.
J Mol Diagn
; 25(9): 655-664, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354993
9.
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing.
J Mol Diagn
; 24(6): 576-585, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35452844
10.
Characterization of Reference Materials for TPMT and NUDT15: A GeT-RM Collaborative Project.
J Mol Diagn
; 24(10): 1079-1088, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35931342
11.
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX: A GeT-RM Collaborative Project.
J Mol Diagn
; 23(8): 952-958, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34020041
12.
Tracheal Aspirate as an Alternative Biologic Sample for Pharmacogenomics Testing in Mechanically Ventilated Pediatric Patients.
Clin Transl Sci
; 14(2): 497-501, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32702149
13.
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.
J Mol Diagn
; 23(1): 103-110, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33197628
14.
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy.
Sci Rep
; 8(1): 4350, 2018 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29531232
15.
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.
Front Cardiovasc Med
; 4: 11, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28361054
16.
Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis.
Sci Rep
; 6: 38776, 2016 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27996019
17.
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.
PLoS One
; 10(12): e0143588, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26636822
18.
ß-Phenylethylamine as a novel nutrient treatment to reduce bacterial contamination due to Escherichia coli O157:H7 on beef meat.
Meat Sci
; 96(1): 165-71, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23896151
19.
Acetate metabolism and Escherichia coli biofilm: new approaches to an old problem.
FEMS Microbiol Lett
; 344(2): 95-103, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23651469
20.
Correction: Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel.
PLoS One
; 11(1): e0147455, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26771585