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5 / 82 resultsresearch Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Biotinidase Deficiency: A Survey of 10 Cases
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Oral Medications for Central Serous Chorioretinopathy: A Literature Review
Some oral medications may help treat central serous chorioretinopathy, especially eplerenone, but more research is needed.
research The ZIP7 Gene (Slc39a7) Encodes a Zinc Transporter Involved in Zinc Homeostasis of the Golgi Apparatus
The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
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