A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

by Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer
Published 2019-10-01

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

by Daniel L Polla, Maria T O Cardoso, Mayara C B Silva, Isabela C C Cardoso, Cristina T N Medina, Rosenelle Araujo, Camila C Fernandes, Alessandra M M Reis, Rosangela V de Andrade, Rinaldo W Pereira, Robert Pogue
Published 2015-01-01