‘Start the Conversation’: The New South Wales (Australia) Family Health History Campaign

By  

Public Health Genomics, Vol. 13, Iss. 5, 2009-10 ,pp. : 301-309

Karger

Access to resources Recommend Favorite

The spectrum of mutations in UBE3A causing Angelman syndrome

By Meijers-Heijboer H.  

Human Molecular Genetics, Vol. 8, Iss. 1, 1999-01 ,pp. : 129-135

Oxford University Press

Access to resources Recommend Favorite

Beare–Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 852-857

John Wiley & Sons Inc

Access to resources Recommend Favorite

loss-of-function mutations in developmental eye disorders including SHORT syndrome

By Reis Linda   Tyler Rebecca   Schilter Kala   Abdul-Rahman Omar   Innis Jeffrey   Kozel Beth   Schneider Adele   Bardakjian Tanya   Lose Edward   Martin Donna   Broeckel Ulrich   Semina Elena  

Human Genetics, Vol. 130, Iss. 4, 2011-10 ,pp. : 495-504

Springer Publishing Company

Access to resources Recommend Favorite

Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function

By Weber Birgit   Guo Xiao-Hui   Wraith J. Ed.   Cooper Alan   Kleijer Wim J.   Bunge Susanna   Hopwood John J.  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1573-1579

Oxford University Press

Access to resources Recommend Favorite