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Items: 1 to 20 of 103


Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ.

Front Neurol. 2016 Nov 16;7:203.


Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O, Procter M, Tvrdik T, Longo N, Mao R.

Mol Genet Metab Rep. 2014 Feb 11;1:71-84.


A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Monies D, Alhindi HN, Almuhaizea MA, Abouelhoda M, Alazami AM, Goljan E, Alyounes B, Jaroudi D, AlIssa A, Alabdulrahman K, Subhani S, El-Kalioby M, Faquih T, Wakil SM, Altassan NA, Meyer BF, Bohlega S.

Hum Genomics. 2016 Sep 27;10(1):32.


Association and regulation of protein factors of field effect in prostate tissues.

Gabriel KN, Jones AC, Nguyen JP, Antillon KS, Janos SN, Overton HN, Jenkins SM, Frisch EH, Trujillo KA, Bisoffi M.

Int J Oncol. 2016 Oct;49(4):1541-1552. doi: 10.3892/ijo.2016.3666.


Heterogeneity of Human Neutrophil CD177 Expression Results from CD177P1 Pseudogene Conversion.

Wu Z, Liang R, Ohnesorg T, Cho V, Lam W, Abhayaratna WP, Gatenby PA, Perera C, Zhang Y, Whittle B, Sinclair A, Goodnow CC, Field M, Andrews TD, Cook MC.

PLoS Genet. 2016 May 26;12(5):e1006067. doi: 10.1371/journal.pgen.1006067.


Modeling the integration of bacterial rRNA fragments into the human cancer genome.

Sieber KB, Gajer P, Dunning Hotopp JC.

BMC Bioinformatics. 2016 Mar 21;17:134. doi: 10.1186/s12859-016-0982-0.


TNF-α-induced NF-κB activation upregulates microRNA-150-3p and inhibits osteogenesis of mesenchymal stem cells by targeting β-catenin.

Wang N, Zhou Z, Wu T, Liu W, Yin P, Pan C, Yu X.

Open Biol. 2016 Mar;6(3). pii: 150258. doi: 10.1098/rsob.150258.


New obesity classification criteria as a tool for bariatric surgery indication.

De Lorenzo A, Soldati L, Sarlo F, Calvani M, Di Lorenzo N, Di Renzo L.

World J Gastroenterol. 2016 Jan 14;22(2):681-703. doi: 10.3748/wjg.v22.i2.681. Review.


An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3'-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients.

Swart M, Evans J, Skelton M, Castel S, Wiesner L, Smith PJ, Dandara C.

Front Genet. 2016 Jan 7;6:356. doi: 10.3389/fgene.2015.00356.


The human RNA surveillance factor UPF1 regulates tumorigenesis by targeting Smad7 in hepatocellular carcinoma.

Chang L, Li C, Guo T, Wang H, Ma W, Yuan Y, Liu Q, Ye Q, Liu Z.

J Exp Clin Cancer Res. 2016 Jan 13;35:8. doi: 10.1186/s13046-016-0286-2.


Role of p19ink4d in the pathogenesis of hearing loss.

Lai R, Li J, Hu P, Wen J, Jie Q, Dong Y, Peng T, Liu X, Xie D.

Int J Clin Exp Pathol. 2015 Oct 1;8(10):12243-51.


A LAIR1 insertion generates broadly reactive antibodies against malaria variant antigens.

Tan J, Pieper K, Piccoli L, Abdi A, Foglierini M, Geiger R, Tully CM, Jarrossay D, Ndungu FM, Wambua J, Bejon P, Fregni CS, Fernandez-Rodriguez B, Barbieri S, Bianchi S, Marsh K, Thathy V, Corti D, Sallusto F, Bull P, Lanzavecchia A.

Nature. 2016 Jan 7;529(7584):105-9. doi: 10.1038/nature16450.


Molecular Characterization and Biological Effects of a C-Type Lectin-Like Receptor in Large Yellow Croaker (Larimichthys crocea).

Ao J, Ding Y, Chen Y, Mu Y, Chen X.

Int J Mol Sci. 2015 Dec 10;16(12):29631-42. doi: 10.3390/ijms161226175.


SNPase-ARMS qPCR: Ultrasensitive Mutation-Based Detection of Cell-Free Tumor DNA in Melanoma Patients.

Stadler J, Eder J, Pratscher B, Brandt S, Schneller D, Müllegger R, Vogl C, Trautinger F, Brem G, Burgstaller JP.

PLoS One. 2015 Nov 12;10(11):e0142273. doi: 10.1371/journal.pone.0142273.


Exposure to coplanar PCBs induces endothelial cell inflammation through epigenetic regulation of NF-κB subunit p65.

Liu D, Perkins JT, Petriello MC, Hennig B.

Toxicol Appl Pharmacol. 2015 Dec 15;289(3):457-65. doi: 10.1016/j.taap.2015.10.015.


Accelerating the Smith-Waterman algorithm with interpair pruning and band optimization for the all-pairs comparison of base sequences.

Okada D, Ino F, Hagihara K.

BMC Bioinformatics. 2015 Oct 6;16:321. doi: 10.1186/s12859-015-0744-4.


Duplex High-Resolution Melting Assay for the Simultaneous Genotyping of IL28B rs12979860 and PNPLA3 rs738409 Polymorphisms in Chronic Hepatitis C Patients.

Enache EL, Sin A, Bancu L, Ramière C, Diaz O, André P, Enache LS.

Int J Mol Sci. 2015 Sep 14;16(9):22223-42. doi: 10.3390/ijms160922223.

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