News tagged with sequence analysis

A new syndrome caused by mutations in AHDC1

A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

May 01, 2014
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Skin cell defect is surprising allergy trigger

In a new study published in Nature Genetics, Northwestern Medicine and Tel Aviv University scientists have found that a structural defect in skin cells can contribute to allergy development, including skin and food allerg ...

Aug 26, 2013
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Genetic map of Britain goes on display

A genetic map of the British people has been produced by Oxford University researchers. It forms the centrepiece of their display at the Royal Society's free Summer Science Exhibition, which opens today.

Jul 03, 2012
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Genetic evaluation should be part of retinoblastoma care

Results of a study by Baylor College of Medicine physicians underscore the important role that clinical genetic evaluation can have in the management plan of patients with retinoblastoma, a childhood cancer of the eye.

Nov 14, 2011
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New inherited neurometabolic disorder discovered

Researchers at the Swedish medical university Karolinska Institutet have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused ...

Sep 30, 2011
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