Literature DB >> 20034090

Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH.

Anna Lisa Nucaro1, Melania Falchi, Tiziana Pisano, Rossano Rossino, Francesca Boscarelli, Giusi Stoico, Angela Milia, Caterina Montaldo, Carlo Cianchetti, Dario Pruna.   

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Year:  2010        PMID： 20034090     DOI： 10.1002/ajmg.a.33167

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  1 in total

Review 1.  Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Authors:  Berardo Rinaldi; Alessandro Vaisfeld; Sergio Amarri; Chiara Baldo; Giuseppe Gobbi; Pamela Magini; Erto Melli; Giovanni Neri; Francesca Novara; Tommaso Pippucci; Romana Rizzi; Annarosa Soresina; Laura Zampini; Orsetta Zuffardi; Marco Crimi
Journal:  Orphanet J Rare Dis       Date:  2017-04-11       Impact factor: 4.123
  1 in total

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