NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot

By  

American Journal Of Medical Genetics Part A, Vol. 176, Iss. 3, 2018-03 ,pp. : 649-656

John Wiley & Sons Inc

Access to resources Recommend Favorite

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 11, 2015-11 ,pp. : 2702-2706

John Wiley & Sons Inc

Access to resources Recommend Favorite

Familial Infiltrative Fibromatosis (Desmoid Tumours) (MIM135290) Caused by a Recurrent 3′ APC Gene Mutation

By Scott Rodney J.   Froggatt Nicola J.   Trembath Richard C.   Evans D. Gareth R.   Hodgson Shirley V.   Maher Eamonn R.  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 1921-1924

Oxford University Press

Access to resources Recommend Favorite

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

By Mee Lisa  

Human Molecular Genetics, Vol. 14, Iss. 11, 2005-06 ,pp. : 1475-1488

Oxford University Press

Access to resources Recommend Favorite

Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1196-1203

John Wiley & Sons Inc

Access to resources Recommend Favorite