Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation

By Masson Emmanuelle  

Human Genetics, Vol. 123, Iss. 5, 2008-06 ,pp. : 521-529

Springer Publishing Company

Access to resources Recommend Favorite

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

By Propping P.  

Human Molecular Genetics, Vol. 11, Iss. 7, 2002-04 ,pp. : 799-804

Oxford University Press

Access to resources Recommend Favorite

Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis

By Su Nan   Sun Qidi   Li Can   Lu Xiumin   Qi Huabing   Chen Siyu   Yang Jing   Du Xiaolan   Zhao Ling   He Qifen   Jin Min   Shen Yue   Chen Di   Chen Lin  

Human Molecular Genetics, Vol. 19, Iss. 7, 2010-04 ,pp. : 1199-1210

Oxford University Press

Access to resources Recommend Favorite

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

By  

Molecular Syndromology, Vol. 2, Iss. 2, 2012-01 ,pp. : 81-87

Karger

Access to resources Recommend Favorite

Population-specific GSTM1 copy number variation

By Huang R. Stephanie   Chen Peixian   Wisel Steve   Duan Shiwei   Zhang Wei   Cook Edwin H.   Das Soma   Cox Nancy J.   Dolan M. Eileen  

Human Molecular Genetics, Vol. 18, Iss. 2, 2009-01 ,pp. : 366-372

Oxford University Press

Access to resources Recommend Favorite