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developmental delay

From The Labs 

From mouse model to human; serendipity leads to human genetic diagnosis

April 24, 2017ATXN1-CIC, Autism, developmental delay, epilepsy, hyperactivity, intellectual disabilitis, Mouse models, Neuroscience

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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From The Labs 

Collaboration matters when looking for answers to undiagnosed diseases

February 10, 2017data sharing, de novo mutation, developmental delay, Human genetics, NACC1, Rare Diseases, undiagnosed diseases, whole exome sequencing

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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From the Labs Image of the Month

From The Labs Image of the Month From the Labs: a transparent heart

Healthy Habits: A DOC-umentary Series

https://www.youtube.com/watch?v=SlNiMWHUhbc

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