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_ Add URL ($5) Total 13 Links - Displaying: 1 to 10 Add Premium URL ($25) Aarskog Syndrome (4) Aase Syndrome (3) Ablepharon-Macrostomia Syndrome (3) Alagille Syndrome (7) Alfi's Syndrome (2) Alkaptonuria (4) Alpha-1 Antitrypsin Deficiency (11) Batten Disease (7) Beckwith-Wiedemann Syndrome (7) Bloom Syndrome (4) Branchio-Oto-Renal Syndrome (6) Coffin Lowry Syndrome (4) Cohen Syndrome (4) Costello Syndrome (2) Cowden Syndrome (2) Craniofrontonasal Dysplasia (3) Crigler-Najjar Syndrome (7) Currarino Syndrome (3) Cystic Fibrosis (111) DiGeorge Syndrome (4) Down Syndrome (97) Dubowitz Syndrome (3) Ectodermal Dysplasia (5) Epidermolysis Bullosa (16) Familial Hypercholesterolemia (1) Fatty Oxidation (5) Floating-Harbor Syndrome (4) Fragile X Syndrome (12) Gilbert's Syndrome (8) Glutaricaciduria (2) Hailey-Hailey Disease (3) Hemihypertrophy (3) Hemochromatosis (23) Hereditary Angioedema (6) Hereditary Spastic Paraplegia (7) Hydrolethalus Syndrome (4) Incontinentia Pigmenti (7) Joubert Syndrome (7) Klinefelter Syndrome (9) Laurence-Moon Syndrome (3) Lesch-Nyhan Syndrome (1) Loeys-Dietz Syndrome (5) Lowe Syndrome (2) Machado-Joseph (2) Mannosidosis (2) MEB Disease (3) Meckel-Gruber Syndrome (2) Mobius Syndrome (3) Mulibrey Nanism (2) Nail Patella Syndrome (3) Nasu-Hakola Disease (3) Noonan Syndrome (8) Opitz Syndrome (4) Organizations (8) Pallister Killian Mosaic Syndrome (9) Pallister-Hall Syndrome (3) Personal Pages (10) Popliteal Pterygium Syndrome (1) Prader-Willi Syndrome (8) Propionic Acidemia (5) Proteus Syndrome (5) Prune Belly Syndrome (2) Pseudoxanthoma Elasticum (5) RAPADILINO Syndrome (2) Robinow Syndrome (4) Russell Silver Syndrome (3) Sanfilippo Syndrome (7) Schizencephaly (1) Shwachman Syndrome (7) Sirenomelia (6) Smith Lemli Opitz Syndrome (3) Smith-Magenis Syndrome (3) Soto's Syndrome (4) Sturge-Weber Syndrome (4) Thrombocytopenia Absent Radius Syndrome (3) Trichothiodystrophy (10) Turner Syndrome (12) Urea Cycle (2) Usher Syndrome (2) Velo-Cardio-Facial Syndrome (5) Von Hippel-Lindau (4) Waardenburg Syndrome (2) Weaver Syndrome (2) Williams Syndrome (17) Wolf-Hirschhorn Syndrome (7) Xeroderma Pigmentosum (6) Zellweger Syndrome (6) 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. http://www.a3243g.com/ - Report 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. http://freespace.virgin.net/andy.bowles/ - Report Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. http://www.geneclinics.org - Report 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. http://www.kumc.edu/gec/support/ - Report 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. http://www.ctds.info/genetic_disorders.html - Report 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. http://www.immd.de/ - Report Information on Trisomy 13 Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease. http://www.drgreene.org/body.cfm?id=21&action=detail&ref=614 - Report 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. http://www.newscientist.com/article/dn7445 - Report Primary Ciliary Dyskinesia Information on a rare congenital disease. http://www.p-c-d.org/en/ - Report 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. http://www.jewishgeneticscenter.org/ - Report Thumbnail Screenshots by Thumbshots Next Pages: [1] 2