EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

By  

Molecular Genetics & Genomic Medicine, Vol. 2324-9269, Iss. 5, 2015-09 ,pp. : 452-458

John Wiley & Sons Inc

Access to resources Recommend Favorite

LEOPARD Syndrome: Clinical Features and Gene Mutations

By  

Molecular Syndromology, Vol. 3, Iss. 4, 2012-08 ,pp. : 145-157

Karger

Access to resources Recommend Favorite

Point Mutations in Human GLI3 Cause Greig Syndrome

By Wild Anja   Kalff-Suske Martha   Vortkamp Andrea   Bornholdt Dorothea   Kônig Rainer   Grzeschik Karl-Heinz  

Human Molecular Genetics, Vol. 6, Iss. 11, 1997-10 ,pp. : 1979-1984

Oxford University Press

Access to resources Recommend Favorite

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome

By Kalff-Suske Martha   Wild Anja   Topp Juliane   Wessling Martina   Jacobsen Eva-Maria   Bornholdt Dorothea   Engel Hartmut   Heuer Heike   Aalfs Cora M.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1769-1777

Oxford University Press

Access to resources Recommend Favorite

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

By Williamson Kathleen A.   Hever Ann M.   Rainger Joe   Rogers R. Curtis   Magee Alex   Fiedler Zdenek   Keng Wee Teik   Sharkey Freddie H.   McGill Niolette   Hill Clare J.   Schneider Adele   Messina Mario   Turnpenny Peter D.   Fantes Judy A.   van Heyningen Veronica   FitzPatrick David R.  

Human Molecular Genetics, Vol. 15, Iss. 9, 2006-05 ,pp. : 1413-1422

Oxford University Press

Access to resources Recommend Favorite