Dentition Abnormalities in a Timothy Syndrome Patient With a Novel Genetic Mutation: A Case Report

By Papineau Scott D.   Wilson Stephen  

Pediatric Dentistry, Vol. 36, Iss. 3, 2014-06 ,pp. : 245-249

American Academy of Pediatric Dentistry

Access to resources Recommend Favorite

A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome

By Fiorini Claudia   Jilani Sawssen   Losi Claretta   Silini Antonietta   Giliani Silvia   Ferrari Simona   Notarangelo Luigi   Plebani Alessandro   Sfar Taher   Helal Ahmed  

European Journal of Pediatrics, Vol. 163, Iss. 12, 2004-12 ,pp. : 704-708

Springer Publishing Company

Access to resources Recommend Favorite

Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family

By Kusuhara Koichi   Nomura Akihiko   Nakao Futoshi   Hara Toshiro  

European Journal of Pediatrics, Vol. 163, Iss. 1, 2004-01 ,pp. : 30-32

Springer Publishing Company

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

GRISCELLI SYNDROME: Description of a Case with Rab27A Mutation

By Aslan Deniz   Sari Sinan   Derinöz Okşan   Dalgiç Buket  

Pediatric Hematology and Oncology, Vol. 23, Iss. 3, 2006-04 ,pp. : 255-261

Informa Healthcare

Access to resources Recommend Favorite