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Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
- Goel, Himanshu, O'Donnell, Sheridan, Roscioli, Tony, Hart, Francesca
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
- Dudding-Byth, Tracy, Baxter, Anne, Kleefstra, Tjitske, Ratwatte, Seshika, Riveros, Carlos, Brain, Steve, Lovell, Brian C., Holliday, Elizabeth G., Hackett, Anna, O'Donnell, Sheridan, White, Susan M., Attia, John, Brunner, Han, de Vries, Bert, Koolen, David
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