Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content ++ Genetic testing and diagnostics ++ www.nextgxdx.com/ ++ www.genetests.org/ ++ Genome browsers ++ genome.ucsc.edu/ ++ www.ensembl.org/ ++ Disease information ++ omim.org/ ++ www.rarechromo.org/ ++ www.ncbi.nlm.nih.gov/books/NBK1116/ ++ elementsofmorphology.nih.gov/ ++ Patient-centered disease information ++ www.umdf.org/ ++ ghr.nlm.nih.gov/ ++ www.rarechromo.org/ ++ www.babysfirsttest.org/ ++ Newborn screening ++ www.babysfirsttest.org/ ++ www.newbornscreening.info/ ++ genes-r-us.uthscsa.edu/ ++ Advocacy and support ++ www.raregenomics.org/ ++ www.mitoaction.org/ ++ www.umdf.org/ ++ www.acmg.net/ ++ everylifefoundation.org/ ++ globalgenes.org/ ++ www.genome.gov/ ++ www.acmg.net/ACMG/Advocacy/ACMG/Advocacy/Advocacy.aspx?hkey =759c3556-90cb-42a7-ba8d-af07742bf941 ++ Trisomy 21 advocacy and support ++ www.ndsccenter.org/ ++ www.ndss.org/ ++ Variant databases and support ++ genematcher.org/ ++ www.ncbi.nlm.nih.gov/clinvar/intro/ ++ cancer.sanger.ac.uk/cosmic ++ exac.broadinstitute.org/ ++ www.1000genomes.org/ ++ dgv.tcag.ca/dgv/app/home ++ Physician/practitioner education and support ++ geneticsinprimarycare.aap.org/ ++ genes-r-us.uthscsa.edu/resources/genetics/primary_care.htm ++ www.geneticmetabolic.com/ ++ newbornscreeningeducation.org/ ++ www.acmg.net/ACMG/Publications/Practice_Guidelines/ACMG/Publications/ Practice_Guidelines.aspx ++ g-2-c-2.org/ ++ www.pathologylearning.org/trig/resources ++ Rare disease search engines: Note that these search engines cannot replace sound clinical experience and should be used only to supplement more traditional diagnostic approaches. ++ findzebra.compute.dtu.dk/ ++ omim.org/ ++ www.simulconsult.com/ ++ Nutrition and dietary ++ dsld.nlm.nih.gov/dsld/ ++ Metabolic disease ++ www.geneticmetabolic.com/ ++ www.genome.gov/27551373 Your MyAccess profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Username? Forgot Password? Sign in via OpenAthens Sign in via Shibboleth