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Journal of Medical Genetics|March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, et al.Journal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.Pageof 6