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You searched for: Author/Creator Kessel, Amit

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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)

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