Joshua Manor
4PUBLICATIONS
6CO-AUTHORS
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Publications (4)
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|Nov 12, 2023
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors.Matthew T Snyder, Joshua Manor, Charul Gijavanekar
|Mar 01, 2022
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.Joshua Manor, Daniel G Calame, Charul Gijavanekar
|Oct 30, 2021
ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models.Joshua Manor, Hyunglok Chung, Pranjali K Bhagwat
|Jun 01, 2021
A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.Joshua Manor, Daniela Dinu, Mahshid S Azamian
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