The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference32 articles.
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4. Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes;Cotter;Eur J Hum Genet,2005
5. Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? Report of two families;Courtens;Am J Med Genet Part A,2008
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2. Assessment of burden and segregation profiles of CNVs in patients with epilepsy;Annals of Clinical and Translational Neurology;2022-06-08
3. Assessment of burden and segregation profiles of CNVs in patients with epilepsy;2022-02-25
4. Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome;Neurosciences;2020-08
5. Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience;American Journal of Medical Genetics Part A;2019-09-03
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