Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

por Joshi, Charuta, Kolbe, Diana L., Mansilla, M. Adela, Mason, Sara O., Smith, Richard J. H., Campbell, Colleen A.
Publicado 2016

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases

por Mansilla, M Adela, Sompallae, Ramakrishna R, Nishimura, Carla J, Kwitek, Anne E, Kimble, Mycah J, Freese, Margaret E, Campbell, Colleen A, Smith, Richard J, Thomas, Christie P
Publicado 2019

A Mutation in Mouse Pak1ip1 Causes Orofacial Clefting while Human PAK1IP1 Maps to 6p24 Translocation Breaking Points Associated with Orofacial Clefting

por Ross, Adam P., Mansilla, M. Adela, Choe, Youngshik, Helminski, Simon, Sturm, Richard, Maute, Roy L., May, Scott R., Hozyasz, Kamil K., Wójcicki, Piotr, Mostowska, Adrianna, Davidson, Beth, Adamopoulos, Iannis E., Pleasure, Samuel J., Murray, Jeffrey C., Zarbalis, Konstantinos S.
Publicado 2013