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CCMG practice guideline: laboratory guidelines for next-generation sequencing

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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

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Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

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ATR-16 syndrome: mechanisms linking monosomy to phenotype

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Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk

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Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

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Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, Hazel M Inskip, Christopher D Byrne, Miho Ishida, Gudrun E Moore, Emma L Wakeling, Angela Fenwick, Deborah J G Mackay, Justin Huw Davies, I Karen Temple

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February 13, 2020

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

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October 24, 2019

Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF

Mingrong Lv, Wangjie Liu, Wangfei Chi, Xiaoqing Ni, Jiajia Wang, Huiru Cheng, Wei-Yu Li, Shenmin Yang, Huan Wu, Junqiang Zhang, Yang Gao, Chunyu Liu, Caihua Li, Chenyu Yang, Qing Tan, Dongdong Tang, Jingjing Zhang, Bing Song, Yu-Jie Chen, Qiang Li, Yading Zhong, Zhihua Zhang, Hexige Saiyin, Li Jin, Yuping Xu, Ping Zhou, Zhaolian Wei, Chuanmao Zhang, Xiaojin He, Feng Zhang, Yunxia Cao

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February 12, 2020

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