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Browsing Tag

Neurodevelopmental disorders

2 posts
GGenetics
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
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Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches

  • July 28, 2025
Kumar D. Disorders of the genome architecture: a review. Genom Med. 2008;2:69–76. https://doi.org/10.1007/s11568-009-9028-2. Article  Google Scholar  Shaw CJ,…
GGenetics
Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders
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Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders

  • July 17, 2025
Ng, S. B. et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 42, 30–35…
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