The mutational spectrum of NRAS gene discovers a novel frameshift mutation (E49R) in Saudi colorectal cancer patients by Mahmood Rasool, Absarul Haque, Mohammed Alharthi, Abdulrahman Sibiany, Mohammed Saad Alamri, Samer Mohammed Hassan Alqarni, Irfan A. Rather, Adeel G. Chaudhary, Sajjad Karim, Peter Natesan Pushparaj

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Case report: Hypoparathyroidism-sensorineural hearing loss-renal dysplasia without febrile seizures: a novel mutation in the GATA3 gene by Haibin Chen, Haibin Chen, Yudi Zhang, Xueyao Yang, Xueyao Yang, Yongzhen Li

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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15 by Jianyan Pan, Hua Teng, Fang Liu, Siyi Chen, Yaning Liu, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu

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Clinical and molecular characterisation of children with monogenic obesity: a case series by Arun George, Santhosh Navi, Pamali Nanda, Roshan Daniel, Kiran Anand, Sayan Banerjee, Inusha Panigrahi, Devi Dayal

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