7 results on '"Van Bergen, Nicole J"'
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2. Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)
3. OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy
4. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
5. Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child
6. Oxidative phosphorylation measurement in cell lines and tissues
7. Mitochondrial dysfunction in glaucoma and emerging bioenergetic therapies
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