A functional genetic study identifies HAND1 mutations in septation defects of the human heart

By Reamon-Buettner Stella Marie   Ciribilli Yari   Traverso Ilaria   Kuhls Beate   Inga Alberto   Borlak Juergen  

Human Molecular Genetics, Vol. 18, Iss. 19, 2009-10 ,pp. : 3567-3578

Oxford University Press

Access to resources Recommend Favorite

Sequence-specific stalling of DNA polymerase  and the effects of mutations causing progressive ophthalmoplegia

By Atanassova Neli   Fusté Javier Miralles   Wanrooij Sjoerd   Macao Bertil   Goffart Steffi   Bäckström Stefan   Farge Geraldine   Khvorostov Ivan   Larsson Nils-Göran   Spelbrink Johannes N.   Falkenberg Maria  

Human Molecular Genetics, Vol. 20, Iss. 6, 2011-03 ,pp. : 1212-1223

Oxford University Press

Access to resources Recommend Favorite

Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart

By  

American Journal Of Medical Genetics Part A, Vol. 155, Iss. 10, 2011-10 ,pp. : 2416-2421

John Wiley & Sons Inc

Access to resources Recommend Favorite

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

By Luoma Petri T.  

Human Molecular Genetics, Vol. 14, Iss. 14, 2005-07 ,pp. : 1907-1920

Oxford University Press

Access to resources Recommend Favorite

Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase  associated with progressive external ophthalmoplegia

By Stuart Gregory R.   Santos Janine H.   Strand Micheline K.   Van Houten Bennett   Copeland William C.  

Human Molecular Genetics, Vol. 15, Iss. 2, 2006-01 ,pp. : 363-374

Oxford University Press

Access to resources Recommend Favorite