Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report

by Iffa Mutmainah, Willy Nillesen, Farmaditya Mundhofir, Tri Winarni, Ineke van der Burgt, Helger Yntema, Sultana Faradz
Published 2016-05-01

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

by Almira Zada, Farmaditya E. P. Mundhofir, Rolph Pfundt, Nico Leijsten, Willy Nillesen, Sultana M. H. Faradz, Nicole de Leeuw
Published 2014-01-01