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skip to content advertisement menu explore journals get published about bmc login my account search search all bmc articles search orphanet journal of rare diseases menu home about articles submission guidelines search submit a manuscript the official journal of orphanet , the portal for rare diseases and orphan drugs. our new editor-in-chief bmc is proud to present the new editor-in-chief for orphanet journal of rare diseases, professor francesc palau! please click here to learn more about professor palau , and his career in the world of rare diseases. call for papers: rare disease in the u.s. orphanet journal of rare diseases is happy to open up a call for papers, for a new thematic series: rare disease in the united states. please click here to see how you can contribute to this look at rare disease work in one of the field's biggest areas! rare disease day: 2018's findacure winner we are proud to publish the 2018 winner of findacure’s “student voice” essay contest! a medical student takes the reader through a journey of how her eyes were opened to the importance of rare disease. editor-in-chief francesc palau, sant joan de déu children's hospital and ciberer, spain ojrd reviews over the last decade-plus, orphanet journal of rare diseases has served as a leading home for the latest reviews on rare diseases and orphan drugs. this is very important work as often, reviews will be some of the best sources of information about rare diseases and their evolution. please take a look at some of our most recent work in this essential vein. read here articles recent most accessed content type: research | 29 september 2018 cost-effectiveness analysis of lumacaftor and ivacaftor combination for the treatment of patients with cystic fibrosis in the united states authors: dolly sharma, shan xing, yu-ting hung, rachel n. caskey, maria l. dowell and daniel r. touchette content type: letter to the editor | 29 september 2018 neutralizing anti-drug antibodies in fabry disease have no obvious clinical impact? authors: malte lenders, boris schmitz, stefan-martin brand and eva brand content type: position statement | 29 september 2018 diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age authors: ania c. muntau, marcel du moulin and francois feillet content type: meeting abstracts | 28 september 2018 9th european conference on rare diseases & orphan products (ecrd vienna 2018) authors: content type: research | 26 september 2018 broad phenotypic spectrum and genotype-phenotype correlations in gmppb -related dystroglycanopathies: an italian cross-sectional study authors: guja astrea, alessandro romano, corrado angelini, carlo giuseppe antozzi, rita barresi, roberta battini, carla battisti, enrico bertini, claudio bruno, denise cassandrini, marina fanin, fabiana fattori, chiara fiorillo, renzo guerrini, lorenzo maggi, eugenio mercuri… most recent articles rss view all articles content type: review | 21 may 2010 beta-thalassemia authors: renzo galanello and raffaella origa content type: review | 11 may 2010 a review of trisomy x (47,xxx) authors: nicole r tartaglia, susan howell, ashley sutherland, rebecca wilson and lennie wilson content type: review | 16 december 2010 toxic epidermal necrolysis and stevens-johnson syndrome authors: thomas harr and lars e french content type: review | 16 july 2014 igg4- related disease: an orphan disease with many faces authors: herwig pieringer, ilse parzer, adelheid wöhrer, petra reis, bastian oppl and jochen zwerina content type: review | 20 december 2010 huntington's disease: a clinical review authors: raymund ac roos most accessed articles rss view all articles featured series: spinraza one of the journals in our extended family, gene therapy , is featuring a special issue this month, entitled "spinraza and advanced therapies: a stakeholder special". this issue is a vital resource for all stakeholders in the development of advanced therapies such as spinraza, which is used to treat spinal muscular atrophy. ada-scid new horizons in the management of ada-scid, springer healthcare ime’s independent educational resource, is pleased to share its most recent updates: interviews at esid, summaries of the latest research, free access to full-text articles, and full editorials. coming soon: interactive patient cases, an on-demand webinar, and more expert interviews. the portal is for paediatric/adult immunologists, gene and cell therapy clinicians, transplant specialists, paediatricians and haematologists designed to educate healthcare professionals who are presented with ada-scid patients. this educational activity is supported by an educational grant from glaxosmithkline. read here call for papers: rare disease in spain orphanet journal of rare diseases is excited to open up a call for papers, for a new thematic series: rare disease in spain. please click here to see how you can contribute a submission to this look at rare disease work in one of the field's biggest areas! rare disease day quiz our annual rare disease day quiz has returned to the bmc "on medicine" blog! test your knowledge of rare diseases and most importantly, learn more about them. feel free to share your score with us at @ojrarediseases and try last year's edition ! aims and scope orphanet journal of rare diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. the journal publishes high-quality reviews on specific rare diseases. in addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. the journal does not accept case reports. about orphanet orphanet is the reference portal for information on rare diseases and orphan drugs. it offers a range of freely accessible services: an inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications. an encyclopedia of rare diseases in six languages. an inventory of orphan drugs at all stages of development, from ema (european medicines agency) orphan designation to european market authorization. a directory of specialised services, providing information on specialized clinics , medical laboratories , ongoing research projects , clinical trials , registries , networks, technological platforms and patient organizations , in the field of rare diseases, in each of the countries in orphanet's network. an assistance-to-diagnosis tool allowing users to search by signs and symptoms. an encyclopedia of recommendations and guidelines for emergency medical care . a bimonthly newsletter, orphanews , which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in english and french. a collection of thematic reports, the orphanet reports series , focusing on overarching themes, directly downloadable from the website. free access to orphanet data for research purpose is available at www.orphadata.org . latest tweets advertisement submit a manuscript editorial board sign up for article alerts and news from this journal affiliated with orphanet journal of rare diseases is the official journal of orphanet , the portal for rare diseases and orphan drugs. follow follow us on twitter 2017 journal metrics speed 62 days from submission to first decision 117 days from submission to acceptance 19 days from acceptance to publication citation impact 3.607 - 2-year impact factor 4.185 - 5-year impact factor 1.485 - source normalized impact per paper (snip) 1.413 - scimago journal rank (sjr) usage 1,427,502 downloads 1355 altmetric mentions more about our metrics advertisement orphanet journal of rare diseases issn: 1750-1172 contact us submission enquiries: access here and click contact us general enquiries: [email protected] explore journals get published about bmc read 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