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Human Molecular Genetics: Oxford Journals | Medicine & Health ...

http://hmg.oxfordjournals.org/

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

Hum. Mol. Genet. -- Archive of all online content by date

http://hmg.oxfordjournals.org/content/by/year

hmg.oxfordjournals.org

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

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

www.oxfordjournals.org

Human Molecular Genetics Advance Access (date view)

http://hmg.oxfordjournals.org/content/early/recent

hmg.oxfordjournals.org

Advance Access | Human Molecular Genetics | Oxford Academic

https://academic.oup.com/hmg/advance-access

academic.oup.com

Epistasis: what it means, what it doesn't mean, and statistical ...

https://pdfs.semanticscholar.org/0ea9/8bead71b11ae146d14c2b3d26b91a8c2fdec.pdf

pdfs.semanticscholar.org

Volume 25 Issue R2 | Human Molecular Genetics | Oxford Academic

https://academic.oup.com/hmg/issue/25/R2

academic.oup.com

A radiation hybrid map of the human genome

https://pdfs.semanticscholar.org/30d1/dcd21177bf00efa0f71871d1455cc891c1fa.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

Sequence comparison of human and yeast telomeres identifies ...

https://pdfs.semanticscholar.org/e47d/24adb5c293fa2d7250a42059b4e00b5e7217.pdf

pdfs.semanticscholar.org

full text in PDF

http://www.cmb.ki.se/research/dantuma/PDF%20paper/Verhoef%20HMG%2002.pdf

www.cmb.ki.se

Characterization of an intron splice enhancer that regulates ...

https://pdfs.semanticscholar.org/6b73/bb46552257fb6f3d89c4f36ed84a0fbf0b77.pdf

pdfs.semanticscholar.org

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

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

faculty.washington.edu

The BRC repeats are conserved in mammalian BRCA2 proteins

https://pdfs.semanticscholar.org/281f/6fd1fc7b6b60228b6754af1f7fd74281ac59.pdf

pdfs.semanticscholar.org

Loss of DNA-dependent dimerization of the transcription factor ...

http://biochem.uni-erlangen.de/forschung/wegner/pdf/Sock03.pdf

biochem.uni-erlangen.de

Advanced telomere shortening in respiratory chain disorders

https://pdfs.semanticscholar.org/6a13/b5e60d082118888261862ecb25b61ce37865.pdf

pdfs.semanticscholar.org

Common exon duplication in animals and its role in alternative splicing

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

www.raetschlab.org

The molecular basis of medium-chain acyl-CoA dehydrogenase ...

https://pdfs.semanticscholar.org/5337/d554d316d8eec95d6af99fed0bfaa9718a74.pdf

pdfs.semanticscholar.org

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

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

www.oxfordjournals.org

Classification of common conserved sequences in mammalian ...

https://pdfs.semanticscholar.org/7ee3/b7dd1dfdb57c663e4f3845f0edf4bda00750.pdf

pdfs.semanticscholar.org

View/Open

https://lirias.kuleuven.be/bitstream/123456789/211191/2/ALEXfinal.pdf

lirias.kuleuven.be

(BOR) syndrome in the eyes absent homologous region (eyaHR)

https://pdfs.semanticscholar.org/4e30/82e699e134f642f50f598a25de764a9484df.pdf

pdfs.semanticscholar.org

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

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

bear.fhcrc.org

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

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

pdfs.semanticscholar.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

Genetics of multiple sclerosis

https://pdfs.semanticscholar.org/9b13/5d4b61001e9a89db31cd0c84fae1d7ac13be.pdf

pdfs.semanticscholar.org

Low conservation of alternative splicing patterns in the human and ...

http://www.rtcb.iitp.ru/PDF/12761046.pdf

www.rtcb.iitp.ru

Gene transfer into the mouse retina mediated by an adeno ...

https://pdfs.semanticscholar.org/1c68/37a8bf29cc667237f9ceede4f50fc509474c.pdf

pdfs.semanticscholar.org

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

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

ncrad.org

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

Towards a molecular understanding of Prader–Willi and Angelman ...

http://www.sheldonhickey.com/PDF/Mann.pdf

www.sheldonhickey.com

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

Burdick KE, Lencz T, Funke B, Finn CT, Szeszko PR, Kane JM ...

http://pharmacogeneticsinpsychiatry.com/Burdick%20DTNBP1%20g%20HMG%202006.pdf

pharmacogeneticsinpsychiatry.com

Usher syndrome: molecular links of pathogenesis, proteins and ...

http://www.ag-wolfrum.bio.uni-mainz.de/Dateien/Kremer_et_al_2006_Usher_Review_Human_Mol_Gen.pdf

www.ag-wolfrum.bio.uni-mainz.de

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

Different evolutionary processes shaped the mouse and human ...

http://zimmer.csufresno.edu/~jross/pdfs/2002Youngetal.pdf

zimmer.csufresno.edu

Molecular genetics of human pigmentation diversity

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

openwetware.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

mutations causing cblE disease

http://www.geocities.ws/dleclerc.geo/hmg.pdf

www.geocities.ws

Contribution of DNA sequence and CAG size to mutation ...

http://citeseerx.ist.psu.edu/viewdoc/download?doi=10.1.1.542.907&rep=rep1&type=pdf

citeseerx.ist.psu.edu

Reduction in frataxin causes progressive accumulation of ...

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

njms2.umdnj.edu

Lissencephaly and the molecular basis of neuronal migration

http://www.id.yamagata-u.ac.jp/Ped/medical/pdf/neurology03_01.pdf

www.id.yamagata-u.ac.jp

Mutations in TITF-1 are associated with benign hereditary chorea

http://repub.eur.nl/pub/9889/11971878.pdf

repub.eur.nl

TDRD3, a novel Tudor domain-containing protein, localizes to ...

http://www.biomedsearch.com/attachments/00/18/63/26/18632687/ddn203.pdf

www.biomedsearch.com

Mutant huntingtin's effects on striatal gene expression in mice ...

http://kooperberg.fhcrc.org/papers/2007kuhn.pdf

kooperberg.fhcrc.org

Human neural crest cells display molecular and phenotypic ...

https://mdresource.com/wp-content/uploads/2016/04/Stem-Neural-Crest-Etchevers.pdf

mdresource.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

Structure and decoy-mediated inhibition of the SOX18/Prox1-DNA ...

http://nar.oxfordjournals.org/content/early/2016/03/02/nar.gkw130.full

nar.oxfordjournals.org

Epileptic-like convulsions associated with LIS-1 in the cytoskeletal ...

http://wormshack.ua.edu/uploads/8/7/2/5/87258178/lis1.pdf

wormshack.ua.edu

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

SMN, the spinal muscular atrophy protein, forms a pre-import snRNP ...

http://kitty.2y.idv.tw/~ariel/SMN,%20the%20spinal%20muscular%20atrophy%20protein,%20forms%20a%20pre-import%20snRNP%20complex%20with%20snurportin1%20and%20importin%20beta.pdf

kitty.2y.idv.tw

CypherHMG_Ju Chen.pdf

http://www.childrenscardiomyopathy.org/downloadable_files/CypherHMG_Ju%20Chen.pdf

www.childrenscardiomyopathy.org

Published

http://www.unice.fr/mbailly/Publis/BenayounB2008.pdf

www.unice.fr

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

www.biosyn.com

Trisomy for the Down syndrome 'critical region' is necessary but not ...

http://inertia.bs.jhmi.edu/files/1.pdf

inertia.bs.jhmi.edu

Evans et al. (2004)

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

arachnid.biosci.utexas.edu

Benn CL, Landles C, Li H, Strand AD, Woodman B, Sathasivam K, Li ...

http://cnc.cj.uc.pt/BEB/private/pdfs/NeuroDisor/Benn%20et%20al.%202005.pdf

cnc.cj.uc.pt

Biochemical analysis of pathogenic ligand- dependent FGFR2 ...

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

www-heparin.rpi.edu

Mutations in the CNGB3 gene encoding the β-subunit of the cone ...

http://retinascience.de/references/kohl_hmg00_CNGB3.pdf

retinascience.de

Cherie Stayner, Diana M. Iglesias, Paul R. Goodyer, Lana Ellis, Greg ...

http://zhou-lab.bwh.harvard.edu/Pdf/stayner_Pax2%20HMG06.pdf

zhou-lab.bwh.harvard.edu

Correction of Hunter syndrome in the MPSII mouse model by AAV2 ...

http://www.photographybyrobert.com/mpsforum/huntermouse.pdf

www.photographybyrobert.com

An increased specificity score matrix for the prediction of SF2/ASF ...

http://rulai.cshl.org/reprints/HMG06_SF2.pdf

rulai.cshl.org

(mouse)-like 1 causes human retinal degeneration

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

publications.mpi-cbg.de

Identification Of Retinal Disease Candidates

http://web.eecs.umich.edu/~hero/Preprints/ExpressionProfiling.pdf

web.eecs.umich.edu

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

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

OMIM Entry - # 601388 - DIABETES MELLITUS, INSULIN ...

https://www.omim.org/entry/601388

www.omim.org

SMC1 involvement in fragile site expression

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

50.242.178.108

Succinate inhibition of α-ketoglutarate-dependent enzymes in a ...

https://doi.org/10.1093%2Fhmg%2Fddm275

doi.org

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

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

www.omim.org

Technology

http://pepticom.com/technology.html

pepticom.com

FOXRED1, encoding a FAD-dependent oxidoreductase complex-I ...

http://mootha.med.harvard.edu/PubPDFs/Hum.%20Mol.%20Genet.-20104.pdf

mootha.med.harvard.edu

SGCE missense mutations that cause myoclonus-dystonia ...

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

www.mrcbndu.ox.ac.uk

OMIM Entry - * 400008 - PROTEIN KINASE, Y-LINKED; PRKY

https://omim.org/entry/400008

omim.org

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

PubPeer - The SMN structure reveals its crucial role in snRNP ...

https://pubpeer.com/publications/5B596331F5B87EC9460A414054C937

pubpeer.com

Transcriptional dysregulation in striatal projection- and interneurons ...

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

gondabrain.ls.biu.ac.il

SREBP: a novel therapeutic target

http://abbs.oxfordjournals.org/content/45/1/2.full

abbs.oxfordjournals.org

C9orf91 - Wikipedia

https://en.wikipedia.org/wiki/C9orf91

en.wikipedia.org

Loke HMG 2015

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

morganandmendel.com

Frozen–thawed embryo transfer in a natural or mildly hormonally ...

http://humrep.oxfordjournals.org/content/early/2015/09/12/humrep.dev224.abstract

humrep.oxfordjournals.org

Full Text

http://research.fhcrc.org/content/dam/stripe/olson/files/Polyglutamine_and_transcription_-_gene_expression_changes_sh.pdf

research.fhcrc.org

Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis

https://iris.unipa.it/retrieve/handle/10447/27361/30212/Heterogeneity%20at%20the%20HLA-DRB1%20and%20risk%20for%20MS.pdf

iris.unipa.it

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

Taurai Richard Nenguke | LinkedIn

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

www.linkedin.com

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia ...

http://sleep.stanford.edu/documents/hmg.dds035.full.pdf

sleep.stanford.edu

Gene Transfer Strategy Used to Treat Tay - Sachs Disease (2005 ...

https://embryo.asu.edu/pages/gene-transfer-strategy-used-treat-tay-sachs-disease-2005-sabata-martinos-research-group

embryo.asu.edu

Metabolic and cardiovascular traits: an abundance of recently ...

https://csg.sph.umich.edu/boehnke/pdf/hmg-r102.pdf

csg.sph.umich.edu

Patterson N

http://genetics.med.harvard.edu/reichlab/Reich_Lab/Publications_files/2010_HMG_Patterson_SouthAfricanColoured.pdf

genetics.med.harvard.edu

Downloaded

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

www.muco-ucl.be

Genetic control of the circulating concentration of transforming ...

http://twinsuk.org.uk/wp-content/uploads/2012/03/Grainger.HumMolGenet-.pdf

twinsuk.org.uk

Elucidating the impact of neurofibromatosis-1 germline mutations on ...

https://nfcenter.wustl.edu/wp-content/uploads/2015/04/Hum.-Mol.-Genet.-2015-Anastasaki-hmg-ddv103.pdf

nfcenter.wustl.edu

The human RHOX gene cluster: target genes and functional ...

https://www.researchgate.net/publication/308184863_The_human_RHOX_gene_cluster_target_genes_and_functional_analysis_of_gene_variants_in_infertile_men

www.researchgate.net

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

Evidence for premature aging due to oxidative stress in iPSCs from ...

https://yeolab.github.io/papers/2012/hummolgenet_2012.pdf

yeolab.github.io

COL4A1 and COL4A2 mutations and disease: insights into ...

http://vision.ucsf.edu/gould/Gouldlab/Publications_files/KuoHMG2012.pdf

vision.ucsf.edu

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