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Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

BACKGROUND: Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. METHODS: Array comparat...

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Hlavní autoři: Uwineza, Annette, Caberg, Jean-Hubert, Hitayezu, Janvier, Hellin, Anne Cecile, Jamar, Mauricette, Dideberg, Vinciane, Rusingiza, Emmanuel K, Bours, Vincent, Mutesa, Leon
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4123504/
https://ncbi.nlm.nih.gov/pubmed/25016475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-79
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