Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 Syndrome

By  

Molecular Syndromology, Vol. 3, Iss. 6, 2012-12 ,pp. : 284-287

Karger

Access to resources Recommend Favorite

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity

By Mallery D.  

Human Molecular Genetics, Vol. 8, Iss. 5, 1999-05 ,pp. : 935-941

Oxford University Press

Access to resources Recommend Favorite

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

By  

Molecular Syndromology, Vol. 5, Iss. 2, 2014-01 ,pp. : 57-64

Karger

Access to resources Recommend Favorite

Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2122-2131

John Wiley & Sons Inc

Access to resources Recommend Favorite

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis

By Berry Fred B.  

Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2619-2627

Oxford University Press

Access to resources Recommend Favorite