A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues

By degoul F.   François D.   Diry M.   Ponsot G.   desguerre I.   Héron B.   Marsac C.   Moutard M.L.  

Journal of Inherited Metabolic Disease, Vol. 20, Iss. 1, 1997-01 ,pp. : 49-53

Springer Publishing Company

Access to resources Recommend Favorite

Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G

By Pettman R.   Hurley T.   Addis J.   Robinson B.   Scott H.   Kronick J.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 3, 2007-06 ,pp. : 404-404

Springer Publishing Company

Access to resources Recommend Favorite

A de novo T73I Mutation in PTPN11 in a Neonate with Severe and Prolonged Congenital Thrombocytopenia and Noonan Syndrome

By  

Neonatology, Vol. 104, Iss. 1, 2013-02 ,pp. : 1-5

Karger

Access to resources Recommend Favorite

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

By Dionisi-Vici C.   Seneca S.   Zeviani M.   Fariello G.   Rimoldi M.   Bertini E.   de Meirleir L.  

Journal of Inherited Metabolic Disease, Vol. 21, Iss. 1, 1998-01 ,pp. : 2-8

Springer Publishing Company

Access to resources Recommend Favorite

Multiple Malignancies in a Child with de novo TP53 Mutation

By Wozniak Alicja   Fryer Alan   Grimer Robert   Mc Dowell Heather  

Pediatric Hematology and Oncology, Vol. 28, Iss. 4, 2011-04 ,pp. : 338-343

Informa Healthcare

Access to resources Recommend Favorite