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Medical:Reference:Genetic@ (367)
Home > Diseases-Disorders I > Genetic
Alkaptonuria (7)
Down Syndrome (210)
Fragile X Syndrome (11)
Organizations (81)
Prader-Willi Syndrome (27)

Results 1 - 25 of at least 358

22q11.2 deletion syndrome Treatment and Symptoms
22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body.

A Special Child in the Family
A cystic fibrosis information site. A guide to living with your sick or disabled child.

Abacavir and HLA-B*5701: Overview, Clinical Implications and Genetic Testing
Abacavir is a nucleoside reverse transcriptase inhibitor used in conjunction with other antiretroviral agents in the treatment of HIV infection. HIV, a positive single-stranded RNA virus, undergoes reverse transcription to produce double-stranded viral DNA, which is subsequently incorporated into the host genome and used to produce viral prog...

About Face
Article by Sandy Keefe, MSN, RN on the transformation to children's lives that can occur following reconstructive surgery to correct facial deformities. [PDF]

Acid Maltase Deficiency Association
The Acid Maltase Deficiency Association was established in 1995 to assist in funding research and to promote public awareness of Pompe disease. Pompe disease is one of a family of 49 rare genetic disorders known as Lysosomal Storage Diseases or LSDs. Pompe disease is also known as Acid Maltase Deficiency or Glycogen Storage Disease type II. It affects an estimated 5,000 to 10,000 people in the developed world.

Acoustic Neuroma
An introduction to the condition with treatment options offered by the University of California, San Diego Division of Neurosurgery.

Acoustic Neuroma
Patient education page including symptoms, causes, treatment options, illustrations and a link to a patient story, provided by Dr John Tew of the Mayfield Clinic.

Acoustic Neuroma Journey
Provides information for acoustic neuroma patients to decide which treatment option is the best; wait and watch, surgery, or radiation. Includes links, staging, diagram, mailing list, and surveys.

Alex and Matt Pearl
Personal stories of two children fighting Fanconi Anemia.

Alexander Disease Treatment and Symptoms
Alexander disease is a rare, genetically determined degenerative disorder of the central nervous system.

Alopecia Information And Resources
Summaries on different hair loss conditions plus dermatological and alternative treatments. Includes abstracts of relevant articles from medical journals.

Alopecia Online
Provides information, advice and support for people with Alopecia Areata, Alopecia Totalis and Alopecia Universalis.

Alopecia World
Social networking site and discussion forum for people suffering from hair loss. Members can post photos and videos.

Alzheimer Disease and APOE-4: Overview, Clinical Implications
Alzheimer disease is an irreversible, progressive brain disease. It is characterized by the development of amyloid plaques and neurofibrillary tangles; the loss of connections between nerve cells, or neurons, in the brain; and the death of these nerve cells.

American Association for Klinefelter Syndrome Information & Support
The American Association for Klinefelter Syndrome Information and Support (AAKSIS) is a national volunteer association with the mission of education, support, research, and understanding of 47 XXY and its variants, collectively known as Klinefelter syndrome.

A mother's story of how she diagnosed Shwachman syndrome before a team of doctors could.

Angelman Verein Schweiz
Der Verein informiert über das Angelman-Syndrom, die Folge einer seltenen Genbesonderheit auf dem Chromosom 15. Er fördert den Austausch zwischen Forschung, Praxis und betroffenen Familien und bietet Hilfe und Beratung.

Annie Forts
Non-profit fund assists in education and assistance to individuals with Down Syndrome and supports the study of treatment and rehabilitation.

Apert Syndrome
Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation

Apha-1 Antitrypsin Deficiency Canadian Liver Foundation
The enzyme trypsin is a substance in the body that is able to degrade protein. This enzyme normally performs valuable and healthy functions such as the breakdown of protein in foods. The activities of trypsin must be strictly controlled however, or it can potentially also attack normal tissues in the body causing damage. In order to control the work of trypsin and protect the body's tissues against damage, the liver produces another substance called alpha-1antitrypsin.

Ashly's Skeletal Dysplasia
A mom describes her daughters disorder which is thought to be a metabolic disease similar to mucopolysachharisdoses. Also links to other related sites.

Single mothers fight with Cystic Fibrosis and Marfans syndrome, affecting one lung.

Azathioprine Metabolism and TPMT: Overview, Clinical Implications of the Genetic
Azathioprine is a purine analogue that interferes with DNA synthesis and inhibits the proliferation of quickly growing cells, especially cells of the immune system. It is used as an immunosuppressant in patients undergoing organ transplantation, and its metabolite 6-mercaptopurine is used in the treatment of autoimmune diseases and acute lymp...

Azer's Cystic Fibrosis Website
About a boy who has CF. A parent's personal weblog about the experiences of dealing with this chronic illness, and in depth information about CF.

BEYOND ALZHEIMER’S: How to Avoid the Modern Epidemic of Dementia
BEYOND ALZHEIMER’S: How to Avoid the Modern Epidemic of Dementia (October 2009; M. Evans; 320 pages; $24.95 hardcover) showcases Dr. Scott Mendelson’s groundbreaking examination of the causes and treatment of Alzheimer’s Disease

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