From mouse model to human; serendipity leads to human genetic diagnosis
When Dr. Huda Zoghbi and her colleagues were investigating the role protein complex ATXN1-CIC plays in the normal development of the mouse brain they did not
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developmental delay
Collaboration matters when looking for answers to undiagnosed diseases
It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to
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