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American Journal of Medical Genetics. Part A|September 22, 2025
The International Summit on Health Benefits of Physical Fitness for People With Down Syndrome: Current Science, Gaps, Priorities, and Research OpportunitiesNicolas M Oreskovic, Greg Austin, Brendan Aylward, et al.
Frontiers in Neurology|August 1, 2022
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert ConsensusJonathan D Santoro, Lina Patel, Ryan Kammeyer, et al.
Neuromolecular Medicine|January 5, 2025
Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research SocietyLisi Flores-Aguilar, Eric D Hamlett, Paula Araya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrumEnrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|July 3, 2025
Genetically determined Alzheimer's disease research advances: The Down Syndrome & Autosomal Dominant Alzheimer's Disease 2024 ConferenceNeus Falgàs, Lucia Maure-Blesa, Beau Ances, et al.
American Journal of Human Genetics|August 23, 2016
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeJung-Hyun Kim, Deepali N Shinde, Margot R F Reijnders, et al.
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