Detalhe da pesquisa
1.
Analysis of Cell-Free DNA to Assess Risk of Tumoremia Following Endoscopic Ultrasound Fine-Needle Aspiration of Pancreatic Adenocarcinomas.
Clin Gastroenterol Hepatol
; 16(10): 1632-1640.e1, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526691
2.
Renal amyloidosis associated with a novel sequence variant of gelsolin.
Am J Kidney Dis
; 61(1): 161-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22938848
3.
The use of DNA fingerprinting to resolve conflicting results in patients with suspected gastrointestinal malignancy.
J Clin Gastroenterol
; 47(3): 239-41, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23391868
4.
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.
PLoS One
; 14(7): e0219446, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31276570
5.
Association of rs613872 and Trinucleotide Repeat Expansion in the TCF4 Gene of German Patients With Fuchs Endothelial Corneal Dystrophy.
Cornea
; 38(7): 799-805, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30973406
6.
Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy.
Invest Ophthalmol Vis Sci
; 60(2): 779-786, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30811544
7.
Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.
Invest Ophthalmol Vis Sci
; 58(1): 343-352, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28118661
8.
Mitochondrial Aging and Physical Decline: Insights From Three Generations of Women.
J Gerontol A Biol Sci Med Sci
; 70(11): 1409-17, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297939
9.
Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE).
Neurol Genet
; 5(2): e314, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31041396
10.
Benchmarks for cystic fibrosis carrier screening: a European consensus document.
J Cyst Fibros
; 9(3): 165-78, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20363197
11.
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
J Mol Diagn
; 11(6): 553-61, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19767587