Genetic Disorders
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- Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.|
» A3243G Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions. » Blepharophimosis Ptosis Epicanthus Inversus Syndrome The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder. » Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis. » Genetic and Rare Conditions Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. » IMMD Institute of Medical Molecular Diagnostics Ltd. The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood. » Information on Trisomy 13 Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease. » New Scientist: Heroin Addiction Gene Identified and Blocked Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug. » Primary Ciliary Dyskinesia Information on a rare congenital disease. » The Center For Jewish Genetics Disorders A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources. » The UDGD Spot Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis. » What malformation did El Greco paint? El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it? » XLH Network Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets. » Your Genes, Your Health The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed. |
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Last Updated: 2007-03-24 07:34:36
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