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Items: 1 to 20 of 1391260

1.

UNC80 Deficiency.

Boerkoel C, du Souich C.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2017 Sep 21.

2.

A Practical Guide for Treatment of Pain in Patients with Systemic Mast Cell Activation Disease.

Wirz S, Molderings GJ.

Pain Physician. 2017 Sep;20(6):E849-E861.

PMID:
28934791
3.

Comparison between MRI and pathology in the assessment of tumour regression grade in rectal cancer.

Sclafani F, Brown G, Cunningham D, Wotherspoon A, Mendes LST, Balyasnikova S, Evans J, Peckitt C, Begum R, Tait D, Tabernero J, Glimelius B, Roselló S, Thomas J, Oates J, Chau I.

Br J Cancer. 2017 Sep 21. doi: 10.1038/bjc.2017.320. [Epub ahead of print]

PMID:
28934761
4.

Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family.

Aslam Z, Lee E, Badshah M, Naeem M, Kang C.

Seizure. 2017 Sep 1;51:200-203. doi: 10.1016/j.seizure.2017.08.012. [Epub ahead of print] No abstract available.

PMID:
28934672
5.

The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.

Sagen JV, Bjørkhaug L, Haukanes BI, Grevle L, Molnes J, Nedrebø BG, Søvik O, Njølstad PR, Johansson S, Molven A.

Diabetes Res Clin Pract. 2017 Sep 1;133:142-149. doi: 10.1016/j.diabres.2017.08.001. [Epub ahead of print]

PMID:
28934671
6.

Cooperative stimulation of atherogenesis by lipopolysaccharide and palmitic acid-rich high fat diet in low-density lipoprotein receptor-deficient mice.

Lu Z, Li Y, Brinson CW, Lopes-Virella MF, Huang Y.

Atherosclerosis. 2017 Sep 9;265:231-241. doi: 10.1016/j.atherosclerosis.2017.09.008. [Epub ahead of print]

PMID:
28934649
7.

Measuring and modeling for the assessment of the genetic background behind cognitive processes in donkeys.

Navas FJ, Jordana J, León JM, Arando A, Pizarro G, McLean AK, Delgado JV.

Res Vet Sci. 2017 Sep 14;113:105-114. doi: 10.1016/j.rvsc.2017.09.013. [Epub ahead of print]

PMID:
28934612
8.

Big Lessons from Little Yeast: Budding and Fission Yeast Centrosome Structure, Duplication, and Function.

Cavanaugh AM, Jaspersen SL.

Annu Rev Genet. 2017 Sep 15. doi: 10.1146/annurev-genet-120116-024733. [Epub ahead of print]

PMID:
28934593
9.

Combining Traditional Mutagenesis with New High-Throughput Sequencing and Genome Editing to Reveal Hidden Variation in Polyploid Wheat.

Uauy C, Wulff BBH, Dubcovsky J.

Annu Rev Genet. 2017 Sep 20. doi: 10.1146/annurev-genet-120116-024533. [Epub ahead of print]

PMID:
28934591
10.

The Relationship Between the Human Genome and Microbiome Comes into View.

Goodrich JK, Davenport ER, Clark AG, Ley RE.

Annu Rev Genet. 2017 Sep 20. doi: 10.1146/annurev-genet-110711-155532. [Epub ahead of print]

PMID:
28934590
11.

CLIP-seq analysis of multi-mapped reads discovers novel functional RNA regulatory sites in the human transcriptome.

Zhang Z, Xing Y.

Nucleic Acids Res. 2017 Sep 19;45(16):9260-9271. doi: 10.1093/nar/gkx646.

PMID:
28934506
12.

Hydroxyl-radical footprinting combined with molecular modeling identifies unique features of DNA conformation and nucleosome positioning.

Shaytan AK, Xiao H, Armeev GA, Wu C, Landsman D, Panchenko AR.

Nucleic Acids Res. 2017 Sep 19;45(16):9229-9243. doi: 10.1093/nar/gkx616.

PMID:
28934480
13.

Crystal structure of an engineered, HIV-specific recombinase for removal of integrated proviral DNA.

Meinke G, Karpinski J, Buchholz F, Bohm A.

Nucleic Acids Res. 2017 Sep 19;45(16):9726-9740. doi: 10.1093/nar/gkx603.

PMID:
28934476
14.

ALYREF mainly binds to the 5' and the 3' regions of the mRNA in vivo.

Shi M, Zhang H, Wu X, He Z, Wang L, Yin S, Tian B, Li G, Cheng H.

Nucleic Acids Res. 2017 Sep 19;45(16):9640-9653. doi: 10.1093/nar/gkx597.

PMID:
28934468
15.

Human Bocavirus Capsid Messenger RNA Detection in Children With Pneumonia.

Schlaberg R, Ampofo K, Tardif KD, Stockmann C, Simmon KE, Hymas W, Flygare S, Kennedy B, Blaschke A, Eilbeck K, Yandell M, McCullers JA, Williams DJ, Edwards K, Arnold SR, Bramley A, Jain S, Pavia AT.

J Infect Dis. 2017 Sep 15;216(6):688-696. doi: 10.1093/infdis/jix352.

PMID:
28934425
16.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. No abstract available.

PMID:
28934398
17.

A modifier of Huntington's disease onset at the MLH1 locus.

Lee JM, Chao MJ, Harold D, Abu Elneel K, Gillis T, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF.

Hum Mol Genet. 2017 Oct 1;26(19):3859-3867. doi: 10.1093/hmg/ddx286.

PMID:
28934397
18.

Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus.

Hackinger S, Trajanoska K, Styrkarsdottir U, Zengini E, Steinberg J, Ritchie GRS, Hatzikotoulas K, Gilly A, Evangelou E, Kemp JP; arcOGEN Consortium, GEFOS Consortium, Evans D, Ingvarsson T, Jonsson H, Thorsteinsdottir U, Stefansson K, McCaskie AW, Brooks RA, Wilkinson JM, Rivadeneira F, Zeggini E.

Hum Mol Genet. 2017 Oct 1;26(19):3850-3858. doi: 10.1093/hmg/ddx285.

PMID:
28934396
19.

Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis.

Hinderer C, Katz N, Louboutin JP, Bell P, Tolar J, Orchard PJ, Lund TC, Nayal M, Weng L, Mesaros C, de Souza CFM, Dalla Corte A, Giugliani R, Wilson JM.

Hum Mol Genet. 2017 Oct 1;26(19):3837-3849. doi: 10.1093/hmg/ddx277.

PMID:
28934395
20.

Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.

Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK.

Hum Mol Genet. 2017 Oct 1;26(19):3792-3796. doi: 10.1093/hmg/ddx263.

PMID:
28934391

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