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Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2
American Journal of Medical Genetics, 11/05/09
Digilio MC et al. – The occurrence of this manifestation in del22q11 is currently low. Nevertheless, patients with hemifacial microsomia and microtia associated with clinical features typically associated with del22q11 should now have for specific cytogenetic testing.
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Adenosine deamination in human transcripts generates novel microRNA binding sites
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