Pia Vuorela

1. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
   2007/10/01 by Pia E. Vuorela, Pia Vuorela, Sirpa Ala-Mello +12 · 40 citations
   Medicine · #Anatomy #Atresia #Biology #CHARGE syndrome #Choanal atresia #Coloboma #Congenital Ear and Nasal Anomalies #Exon #Frameshift mutation #Gene #Genetics #Missense mutation #Multiplex ligation-dependent probe amplification #Mutation #Nonsense mutation #Salivary Gland Tumors Diagnosis and Treatment #Tracheal and airway disorders