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Scientific Reports|September 8, 2018
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual DisabilityJ R M Ceroni, R L Dutra, R S Honjo, et al.
American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.
Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
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