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You searched for: Author/Creator Azem, Abdussalam

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1. A novel biallelic loss‐of‐function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia. Issue 7 (18th May 2019)

3. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. Issue 2 (28th January 2019)

7. Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy. Issue 4 (22nd March 2017)