The importance of de novo mutations for pediatric neurological disease—It is not all in utero or birth trauma
Author:
Publisher
Elsevier BV
Subject
Health, Toxicology and Mutagenesis,Genetics
Reference236 articles.
1. Entries in the Leiden Duchenne muscular dystrophy database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule;Aartsma-Rus;Muscle Nerve,2006
2. Adaptor protein complex 4 deficiency causes a severe autosomal recessive intellectual disability, progressive spastic paraplagia, shy character, and short stature;Abou Jamra;Am. J. Hum. Genet.,2011
3. Post-zygotic point mutations are an underrecognized source of de novo genomic variation;Acuna-Hidalgo;Am. J. Hum. Genet.,2015
4. A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD);Adegbola;Am. J. Med. Genet.,2008
5. The etiology of developmental delay;Aicardi;Semin. Ped. Neurol.,1998
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