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Your search keyword '"Fatih, Jawid M."' showing total 4 results

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4 results on '"Fatih, Jawid M."'

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1. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

2. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient

3. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy

4. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

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