Detalhe da pesquisa
1.
Molecular screening of familial hypercholesterolemia in Icelanders.
Scand J Clin Lab Invest
; 80(6): 508-514, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32706999
2.
Comprehensive genetic testing for female and male infertility using next-generation sequencing.
J Assist Reprod Genet
; 35(8): 1489-1496, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29779145
3.
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Hum Mutat
; 37(1): 127-34, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26467025
4.
Characteristics of maturity onset diabetes of the young in a large diabetes center.
Pediatr Diabetes
; 17(5): 360-7, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059258
5.
Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.
J Pers Med
; 12(5)2022 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35629091
6.
Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry.
Anal Chem
; 82(24): 10186-93, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21086978
7.
High-throughput proteomics of breast carcinoma cells: a focus on FTICR-MS.
Expert Rev Proteomics
; 5(3): 445-55, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18532912
8.
Evaluation of CSF-Chlamydia pneumoniae, CSF-tau, and CSF-Abeta42 in Alzheimer's disease and vascular dementia.
J Neurol
; 254(2): 154-9, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17318713
9.
MALDI-TOF MS and TaqMan assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET).
Hum Mutat
; 25(3): 232-8, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15706592
10.
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.
Neuromuscul Disord
; 25(12): 945-51, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420234
11.
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Mol Genet Genomic Med
; 2(6): 522-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25614874
12.
CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing.
Pharmacogenomics
; 10(8): 1243-55, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19663669
13.
Polymorphism of the DNA repair enzyme XRCC1 is associated with treatment prediction in anthracycline and cyclophosphamide/methotrexate/5-fluorouracil-based chemotherapy of patients with primary invasive breast cancer.
Pharmacogenet Genomics
; 17(7): 529-38, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17558308