Ethical Issues in Recruiting Prenatally Diagnosed Adults for Research: Klinefelter Syndrome as an Example

By  

Public Health Genomics, Vol. 15, Iss. 1, 2011-06 ,pp. : 31-33

Karger

Access to resources Recommend Favorite

“CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A. 164:2557‐2566, 2014

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 7, 2015-07 ,pp. : 1682-1683

John Wiley & Sons Inc

Access to resources Recommend Favorite

Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

By Clark Alice R.   Sawyer Gregory M.   Robertson Stephen P.   Sutherland-Smith Andrew J.  

Human Molecular Genetics, Vol. 18, Iss. 24, 2009-12 ,pp. : 4791-4800

Oxford University Press

Access to resources Recommend Favorite

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

By Duchatelet Sabine  

Human Molecular Genetics, Vol. 14, Iss. 1, 2005-01 ,pp. : 1-5

Oxford University Press

Access to resources Recommend Favorite

Oncogenic FGFR3 gene fusions in bladder cancer

By Williams Sarah V.   Hurst Carolyn D.   Knowles Margaret A.  

Human Molecular Genetics, Vol. 22, Iss. 4, 2013-02 ,pp. : 795-803

Oxford University Press

Access to resources Recommend Favorite