After reading this post by Bertalan MeskÃ³, I became aware of this effort by people at the HUGO gene nomenclatrue committe to change the name of genes which can be considered as offensive. Interesting debate. Â Philippe Campeau
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Four patients from 2 different families were identified with a new inborn error of metabolism: a defect in the biosynthesis of Dolichol Phosphate. Frequent features include ichtyosis, hypotonia and dilated cardiomyopathy. Transferin isoelectri buy viagra online in canada c focusing was abnormal. For more details, see the article and website: A Defect in Dolichol Phosphate […]
Hubmed is a search interface for Pubmed which permits the rapid exportation of citations to endnote and other reference managers. Also, it facilitates the conversion of reference lists from PDFs to search results. Â It can prove very useful when writing a paper or reviewing literature. Â Philippe Campeau
Created using Internet Explorer 7, Google reader, Intelligentteams.com and Grazr. Use the buttons on top of the reader to change the view or open in a new window.Â Philippe Campeau Â Â Â Â Â
For interviews with important figures of Human Genetics, visit Conversations in Genetics. Â Thank you very much in advance for your contributions to this blog (Click on login to register and post a message). Philippe Campeau, MD Resident in Medical Genetics at McGill University OMMBID Blog Administrator Â Â Â
Canadian College of Medical GeneticistsÂ Canadian Association of Genetic Counsellors The Garrod Association Canadian Directory of Genetic Support Groups Genome Canada Canadian Gene Cure Foundation Royal College of Physicians and Surgeons of Canada (documents available for Medical Genetics) Genetics Society of Canada The Human Metabolome Project The Canadian Resident Matching Service Humgen, your resource concerning […]
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Pompe disease is a rare genetic disorder caused by a deficiency of an enzyme – acid alpha-glucosidase (GAA) – which is needed to break down glycogen.
Nat Genet. 2004 Jul;36(7):664. A gene network for navigating the literature. Hoffmann R, Valencia A. Â This new portal is exponentially popular. According to the developpers, “By using genes and proteins as hyperlinks between sentences and abstracts, the information in PubMed can be converted into one navigable resource, bringing all advantages of the internet to […]