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Human Molecular Genetics | Oxford Academic

https://hmg.oxfordjournals.org/

Hmg.oxfordjournals.org

A critical examination of the recently reported crystal structures of the ...

http://hmg.oxfordjournals.org/content/early/2016/08/29/hmg.ddw298

Hmg.oxfordjournals.org

The fundamental and medical impacts of recent progress in ...

https://hmg.oxfordjournals.org/content/7/10/1589.full.pdf

Hmg.oxfordjournals.org

Aggregate formation inhibits proteasomal degradation of ...

http://hmg.oxfordjournals.org/content/11/22/2689.full.pdf

Hmg.oxfordjournals.org

Volume 25 Issue 24 | Human Molecular Genetics | Oxford Academic

https://academic.oup.com/hmg/issue/25/24

Academic.oup.com

Loss of phosphatase activity in myotubularin- related protein 2 is ...

http://hmg.oxfordjournals.org/content/11/13/1569.full.pdf

Hmg.oxfordjournals.org

Oxford Journals | Medicine & Health & Science & Mathematics ...

http://www.oxfordjournals.org/hmg/about.html

Www.oxfordjournals.org

Mouse mutagenesis—systematic studies of mammalian gene function

http://hmg.oxfordjournals.org/content/7/10/1627.full.pdf

Hmg.oxfordjournals.org

Issues | Human Molecular Genetics | Oxford Academic

http://academic.oup.com/hmg/issue

Academic.oup.com

Functional analysis of cone–rod homeobox (CRX) mutations ...

https://pdfs.semanticscholar.org/3b1a/812f9439970961eb740cb80f54b7cc668e2f.pdf

Pdfs.semanticscholar.org

Genetic variation in the human urea transporter-2 is associated with ...

https://www.princeton.edu/genomics/botstein/publications/2001_Ranade_Genetic(a).pdf

Www.princeton.edu

Reduction in frataxin causes progressive accumulation of ...

http://njms2.umdnj.edu/njmsweb/pharm_faculty/Santos_files/Human%20Molecular%20Genetics.pdf

Njms2.umdnj.edu

Common exon duplication in animals and its role in alternative splicing

http://www.raetschlab.org/wiki/old-pages/RecentPubs/ExclusiveExons.pdf

Www.raetschlab.org

Human BOULE gene rescues meiotic defects in infertile flies

http://www.cvri.ucsf.edu/~kornberg/Tom_Kornberg_Lab/pdfs/87.%20Xu,%20Lee,%20Klebes,%20Turek,%20Kornberg%20and%20Reijo-Pera%202003.pdf

Www.cvri.ucsf.edu

2016-03-23 # Oxford Journals # A division of Oxford University ...

https://www.oxfordjournals.org/en/help/tech-info/ezproxyconfig.txt

Www.oxfordjournals.org

Global disruption of the cerebellar transcriptome in a Down ...

http://inertia.bs.jhmi.edu/files/12.pdf

Inertia.bs.jhmi.edu

Dysregulation of gene expression in the R6/2 model of ...

http://bear.fhcrc.org/papers/2002luthi1.pdf

Bear.fhcrc.org

Evaluating test statistics to select interesting genes in microarray ...

http://kooperberg.fhcrc.org/papers/2002teststat.pdf

Kooperberg.fhcrc.org

Association of an extended haplotype in the tau gene with ...

https://ncrad.org/docs/Publications/380_Baker_1999.pdf

Ncrad.org

Free Full Text ( Final Version , 538kb )

https://repub.eur.nl/pub/9073/10196376.pdf

Repub.eur.nl

Characterisation of renal chloride channel, CLCN5, mutations in ...

http://pubman.mpdl.mpg.de/pubman/item/escidoc:529592/component/escidoc:529591/Lioyd_Characterisation%20of%20renal%20chloride%20channel_Hum_Mol_Genet_1997.pdf

Pubman.mpdl.mpg.de

A mutation in the canine BHD gene is associated with hereditary ...

https://www.bhdsyndrome.org/wp-content/uploads/2009/09/Lingaas-et-al-2003.-A-mutation-in-the-canine-BHD-gene-is-associated-with-hereditary-multifocal-renal-cystadenocarcinoma-and-nodular-dermatofibrosis-in-the-German-Shepherd-dog..pdf

Www.bhdsyndrome.org

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency

http://www.morquiocommunity.org/6.%20MPS%20IVA%20mouse%20KO.pdf

Www.morquiocommunity.org

Genomic context drives SCA7 CAG repeat instability, while ...

http://cepearsonlab.com/pdf/p21_libby2003.pdf

Cepearsonlab.com

Interactome: gateway into systems biology

http://llama.mshri.on.ca/courses/Biophysics205/Cusick_2005.pdf

Llama.mshri.on.ca

Human chromosome 21 orthologous region on mouse chromosome ...

http://doi.org/10.1093/hmg/ddt446

Doi.org

Excess of high activity monoamine oxidase A gene promoter alleles ...

http://www.molecularpsychiatry.uk-wuerzburg.de/fileadmin/uk/molecularpsychiatry/PDFs/1999/deckertetal99.pdf

Www.molecularpsychiatry.uk-wuerzburg.de

Francomano group, FGFR3 /Thanatophoric mouse model for CNS

http://isds.ch/uploads/pdf_files/2003LinFrancomanoFGFR3CNSmouse.pdf

Isds.ch

yudetectingnaturalse..

http://www.walshlab.org/uploads/publications/215/yudetectingnaturalselectionhummolgenet2009.pdf

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Imprinting and assisted reproductive technology

http://sheldonhickey.com/PDF/Mahler.pdf

Sheldonhickey.com

A Huntington's disease CAG expansion at the murine Hdh locus is ...

http://faculty.washington.edu/rhevner/Huntington.pdf

Faculty.washington.edu

Lissencephaly and the molecular basis of neuronal migration

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Www.id.yamagata-u.ac.jp

extreme

http://docencia.med.uchile.cl/smg/pdf/LALUEZA1997.pdf

Docencia.med.uchile.cl

View PDF

http://citeseerx.ist.psu.edu/viewdoc/download?doi=10.1.1.122.1799&rep=rep1&type=pdf

Citeseerx.ist.psu.edu

Huntingtin facilitates polycomb repressive complex 2

http://www.biomedsearch.com/attachments/00/19/93/37/19933700/ddp524.pdf

Www.biomedsearch.com

FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett ...

http://pevsnerlab.kennedykrieger.org/pdf/Deng_HMG_2007.pdf

Pevsnerlab.kennedykrieger.org

A missense mutation disrupting a dibasic prohormone processing ...

http://genoma.unsam.edu.ar/trac/docencia/raw-attachment/wiki/GeneticaHumana08/Seminarios/5_obesity_paper.pdf

Genoma.unsam.edu.ar

Predisposition to atypical hemolytic uremic syndrome involves the ...

http://www.healthcare.uiowa.edu/kidneeds/Articles%20for%20Hinxton%20Retreat%202006/Predisposition%20to%20aHUS%20involves%20the%20concurrence%20of%20different%20alleles%20of%20the%20RCA%20gene%20cluster.pdf

Www.healthcare.uiowa.edu

Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU ...

http://www.biosyn.com/Images/ArticleImages/Mitochondrial%20fratasxin%20interacts%20with%20ISD11%20of%20the%20NFS1%20ISCU%20complex%20and%20multiple%20mitochondrial%20chaperones.pdf

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Historical perspectives in gonadotrophin therapy | Human ...

http://humupd.oxfordjournals.org/content/10/6/453.full

Humupd.oxfordjournals.org

Association of Eotaxin gene family with asthma and serum total IgE

http://211.226.142.50/center/bbs/board/table/data/upload/Association%20of%20Eotaxin%20gene.pdf

211.226.142.50

Biochemical analysis of Parkinson's disease-causing variants of ...

http://cnc.cj.uc.pt/BEB/private/pdfs/NeurodegenDisease0607/Hampe%20et%20al%20(Hum%20Mol%20Genet)2006.pdf

Cnc.cj.uc.pt

Human Molecular Genetics

http://www.parentprojectmd.org/site/DocServer/_YinscoopDMD.pdf

Www.parentprojectmd.org

OMIM Entry - * 603381 - FILAMIN B; FLNB

https://www.omim.org/entry/603381

Www.omim.org

2010 Hum Mol Gen

http://www.imls.uzh.ch/research/polymenidou/publ/2010hummolgen.pdf

Www.imls.uzh.ch

(mouse)-like 1 causes human retinal degeneration

https://publications.mpi-cbg.de/Maw_2000_134.pdf

Publications.mpi-cbg.de

Autism-specific copy number variants further implicate the ...

http://public-files.prbb.org/publicacions/616b6a30-d55f-012d-a82e-000c293b26d5.pdf

Public-files.prbb.org

Evans et al., 2004

http://arachnid.biosci.utexas.edu/courses/kalthoff/bio346/PDF/Readings/07Evans_et_al(2004).pdf

Arachnid.biosci.utexas.edu

Human Molec Genet 2006

http://jup9009.tripod.com/sitebuildercontent/sitebuilderfiles/hummolecgenet2006.pdf

Jup9009.tripod.com

Protein phosphatase 1 binds to the RNA recognition motif of several ...

https://gbiomed.kuleuven.be/english/research/50000618/50753339/files/stamm.pdf

Gbiomed.kuleuven.be

SMC1 involvement in fragile site expression

http://50.242.178.108:8080/2005/Musio%20A_2005.pdf

50.242.178.108

Survival motor neuron (SMN) protein: role in neurite outgrowth and ...

http://kitty.2y.cc/~ariel/Survival%20motor%20neuron%20(SMN)%20protein-%20role%20in%20neurite%20outgrowth%20and%20neuromuscular%20maturation%20during%20neuronal%20differentiation%20and%20development.pdf

Kitty.2y.cc

Defective sister-chromatid cohesion, aneuploidy and cancer ...

http://ko.cwru.edu/publications/Mann.pdf

Ko.cwru.edu

Positive selection of a CD36 nonsense variant in sub-Saharan Africa ...

https://spiral.imperial.ac.uk/bitstream/10044/1/13189/2/Positive%20selection%20of%20a%20CD36%20nonsense%20variant%20in%20sub-Saharan%20Africa,%20but%20no%20association%20with%20severe%20malaria%20phenotypes..pdf

Spiral.imperial.ac.uk

Biochemical analysis of pathogenic ligand- dependent FGFR2 ...

http://www-heparin.rpi.edu/main/files/papers/347.PDF

Www-heparin.rpi.edu

OMIM Entry - * 601081 - ATP-BINDING CASSETTE, SUBFAMILY 3 ...

http://www.omim.org/entry/601081

Www.omim.org

View PDF

http://www.mrcbndu.ox.ac.uk/sites/default/files/pdfs/esapa2007humanmolgen.pdf

Www.mrcbndu.ox.ac.uk

Mattis Lab Publications - Cedars-Sinai

https://www.cedars-sinai.edu/Research/Research-Labs/Mattis-Lab/Publications.aspx

Www.cedars-sinai.edu

OMIM Entry - # 610297 - PARKINSON DISEASE 13, AUTOSOMAL ...

https://omim.org/entry/610297

Omim.org

Molecular genetics of human pigmentation diversity

http://openwetware.org/images/c/cb/Eye_color_3.pdf

Openwetware.org

DeSanctis–Cacchione syndrome - Wikipedia

https://en.wikipedia.org/wiki/DeSanctis%E2%80%93Cacchione_syndrome

En.wikipedia.org

Loke HMG 2015

http://morganandmendel.com/wp-content/uploads/2016/03/Loke-HMG-2015.pdf

Morganandmendel.com

Transcriptional dysregulation in striatal projection- and interneurons ...

http://gondabrain.ls.biu.ac.il/edsternlab/publications/Zucker%202005.pdf

Gondabrain.ls.biu.ac.il

Repeated low doses of morpholino antisense oligomer: an ...

https://www.ucl.ac.uk/ich/research/developmental-neurosciences/2015-HMG-SMA-Zhou.pdf

Www.ucl.ac.uk

CDKL5 belongs to the same molecular pathway of MeCP2 and it is ...

http://www.supporting-cdkl5.co.uk/resources/2005-CDKL5andMeCP2.pdf

Www.supporting-cdkl5.co.uk

The Rb/E2F pathway and cancer

http://www.brs.kyushu-u.ac.jp/~hamada/japanese/CoreSemi/6.28/The%20Rb-E2F%20pathway%20and%20cancer.pdf

Www.brs.kyushu-u.ac.jp

Transcription of the IL10 gene reveals allele-specific regulation at ...

http://www.molepi.nl/uploads/publicaties/2004/2004_kurreeman_hum_mol_gen.pdf

Www.molepi.nl

Regulation of odorant receptors: one allele at a time

http://www.qb.fcen.uba.ar/sbm/Seminarios%202008/Seminario%209/regulation%20of%20odorrant%20receptors.pdf

Www.qb.fcen.uba.ar

Cystic fibrosis in an era of genomically guided therapy

http://www.muco-ucl.be/documents/pdf/E121.pdf

Www.muco-ucl.be

Taurai Richard Nenguke | LinkedIn

https://www.linkedin.com/in/trnenguke

Www.linkedin.com

Hum.-Mol.-Genet.-2015-Orhan-Akma...

http://apbdrf.org/wp-content/uploads/2012/09/Hum.-Mol.-Genet.-2015-Orhan-Akman-hmg-ddv385.pdf

Apbdrf.org

The handedness-associated PCSK6 locus spans an intronic ...

http://www.well.ox.ac.uk/_asset/file/shore-hmg-2016.pdf

Www.well.ox.ac.uk

et al

https://air.unimi.it/retrieve/handle/2434/153380/287857/Simeoni%202000%20Hum%20Mol%20Genet.pdf

Air.unimi.it

Craniosynostosis | Genetic and Rare Diseases Information Center ...

https://rarediseases.info.nih.gov/diseases/6209/craniosynostosis

Rarediseases.info.nih.gov

Diverse mutational mechanisms cause pathogenic subtelomeric ...

http://www.pediatrics.uthscsa.edu/centers/Chromosome18/PDF/Diverse%20mutational%20mechanisms%20cause%20pathogenic%20subtelomeric%20rearrangements..pdf

Www.pediatrics.uthscsa.edu

Role of microRNAs in vascular diseases, inflammation, and ...

http://cardiovascres.oxfordjournals.org/content/cardiovascres/79/4/581.full.pdf

Cardiovascres.oxfordjournals.org

Omega-3 long-chain PUFA and triglyceride lowering: minimum ...

http://eurheartjsupp.oxfordjournals.org/content/ehjsupp/3/suppl_D/D59.full.pdf

Eurheartjsupp.oxfordjournals.org

genome-wide view of transcription factor gene diversity in chordate ...

http://bfg.oxfordjournals.org/content/11/2/177.full

Bfg.oxfordjournals.org

A defect in the RNA-processing protein HNRPDL causes limb-girdle ...

http://genoma.ib.usp.br/sites/default/files/publicacoes/a-defect-in-the-rna-processing-protein-hnrpdl-causes.pdf

Genoma.ib.usp.br

A multi-ethnic genome-wide association study identifies novel loci ...

https://www.researchgate.net/publication/299567963_A_multi-ethnic_genome-wide_association_study_identifies_novel_loci_for_nonsyndromic_cleft_lip_with_or_without_cleft_palate_on_2p242_17q23_and_19q31

Www.researchgate.net

Single nucleotide polymorphism associated with mature miR-125a ...

https://dev.genetics.emory.edu/labs/jinlab/Jin_Lab_@_Emory/Publications_files/Duan%20et%20al-HMG-2007.pdf

Dev.genetics.emory.edu

Galectin-3 predicts response to statin therapy in the Controlled ...

https://eurheartj.oxfordjournals.org/content/ehj/33/18/2290.full.pdf

Eurheartj.oxfordjournals.org

Calf thymus high mobility group proteins are nonenzymatically ...

https://glycob.oxfordjournals.org/content/8/2/191.full

Glycob.oxfordjournals.org

ALS mutations in FUS cause neuronal dysfunction and death in ...

http://www-vendruscolo.ch.cam.ac.uk/murakami12hmg.pdf

Www-vendruscolo.ch.cam.ac.uk

Sink regulation of photosynthesis | Journal of Experimental Botany ...

http://jxb.oxfordjournals.org/content/52/360/1383.full

Jxb.oxfordjournals.org

Concise report

http://rheumatology.oxfordjournals.org/content/51/10/1855.full.pdf

Rheumatology.oxfordjournals.org

Cerebrospinal fluid APOE levels: an endophenotype for genetic ...

http://kauwelab.byu.edu/Portals/22/Cruchaga-2012-Cerebrospinal%20fluid.pdf

Kauwelab.byu.edu

Systemic AAV9 gene therapy improves the lifespan of mice with ...

http://regenhealthsolutions.info/1/upload/systemic_aav9_gene_therapy_improves_the_lifespan_of_mice_with.pdf

Regenhealthsolutions.info

Genetics of Obesity Syndromes - Oxford Medicine

http://oxfordmedicine.com/view/10.1093/med/9780195300161.001.0001/med-9780195300161

Oxfordmedicine.com

Lack of Pur-alpha alters postnatal brain development and causes ...

http://familysynapse.com/wp-content/uploads/2014/11/473-full.pdf

Familysynapse.com

Atomic force microscopy of DNA in solution and DNA modelling ...

http://nar.oxfordjournals.org/content/35/20/6832.full

Nar.oxfordjournals.org

Context-specific role of SOX9 in NF-Y mediated gene regulation in ...

https://nar.oxfordjournals.org/content/43/13/6257.full

Nar.oxfordjournals.org

Interactome network analysis identifies multiple caspase-6 ...

http://www.a-star.edu.sg/Portals/53/Papers/NDD/Hum.%20Mol.%20Genet.-2016-Riechers-hmg-ddw036.pdf

Www.a-star.edu.sg

Interferon gamma upregulates frataxin and corrects the functional ...

https://www.meduniwien.ac.at/hp/fileadmin/med-genetik/Interferon_gamma_upregulates_frataxin....pdf

Www.meduniwien.ac.at

Molecular signature of primary retinal pigment epithelium and stem ...

https://labs.genetics.ucla.edu/fan/papers/LiaoHMG2010.pdf

Labs.genetics.ucla.edu

Alport syndrome from bench to bedside: the potential of current ...

http://ndt.oxfordjournals.org/content/29/suppl_4/iv124.full

Ndt.oxfordjournals.org

Helicobacter pylori and the BMP pathway regulate CDX2 and SOX2 ...

http://carcin.oxfordjournals.org/content/33/10/1985.full.pdf

Carcin.oxfordjournals.org

http://202.127.25.144

http://202.127.25.144/bitstream/331004/179/2/Genome-wide%20association%20study%20in%20Chinese%20identifies%20novel%20loci%20for%20blood%20pressure%20and%20hypertension.pdf

202.127.25.144

Postnatal inactivation reveals enhanced requirement for MeCP2 at ...

http://birdlab.bio.ed.ac.uk/bird/sites/sbsweb2.bio.ed.ac.uk.bird/files/4.pdf

Birdlab.bio.ed.ac.uk

Human Molecular Genetics

http://cfar.globalhealth.harvard.edu/files/cfar/files/hum_mol_genet_2012.pdf

Cfar.globalhealth.harvard.edu

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