Two cases of wiskott-Aldrich syndrome in neonates due to gene mutations

By Zhang Shulian  

Fetal and Pediatric Pathology, Vol. 32, Iss. 4, 2013-07 ,pp. : 312-315

Informa Healthcare

Access to resources Recommend Favorite

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

By Rummel T.   Suormala T.   Häberle J.   Koch H.   Berning C.   Perrett D.   Fowler B.  

Journal of Inherited Metabolic Disease, Vol. 30, Iss. 3, 2007-06 ,pp. : 401-401

Springer Publishing Company

Access to resources Recommend Favorite

Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T)

By Linnebank M.   Junker R.   Nabavi D.   Linnebank A.   Koch H.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 5, 2003-07 ,pp. : 509-511

Springer Publishing Company

Access to resources Recommend Favorite

AN UNUSUAL ASSOCIATION OF TAR SYNDROME WITH ESOPHAGEAL ATRESIA: A Variant?

By Eren Erdal   Büyükyavus B.   Özgüner I.   Tunç Bahattin   Savas M.  

Pediatric Hematology and Oncology, Vol. 22, Iss. 6, 2005-09 ,pp. : 499-505

Informa Healthcare

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