PTEN mutation spectrum and genotype–phenotype correlations in Bannayan–Riley–Ruvalcaba syndrome suggest a single entity with Cowden syndrome

By Marsh Debbie J.   Kum Jennifer B.   Lunetta Kathryn L.  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1461-1472

Oxford University Press

Access to resources Recommend Favorite

Long‐term survival in TARP syndrome and confirmation of RBM10 as the disease‐causing gene

By  

American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2516-2520

John Wiley & Sons Inc

Access to resources Recommend Favorite

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features

By  

Molecular Syndromology, Vol. 3, Iss. 3, 2012-07 ,pp. : 136-139

Karger

Access to resources Recommend Favorite

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader–Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes

By Horsthemke Bernhard  

Human Molecular Genetics, Vol. 12, Iss. 20, 2003-10 ,pp. : 2723-2732

Oxford University Press

Access to resources Recommend Favorite

Surgical Research, an Elusive Entity

By Reitsma Angelique M.   Moreno Jonathan D.  

American Journal of Bioethics, Vol. 3, Iss. 4, 2003-0 ,pp. : 49-50

Routledge Ltd

Access to resources Recommend Favorite