Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family

By Bostan Ozlem   Temel Şehime   Cangül Hakan   Archer Caroline   Çil Ergun  

Pediatric Cardiology, Vol. 34, Iss. 8, 2013-12 ,pp. : 2063-2067

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Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome

By Morava Eva   Sengers Rob   Laak Henk   Heuvel Lambert   Janssen Antoon   Trijbels Frans   Cruysberg Hans   Boelen Carolien   Smeitink Jan  

European Journal of Pediatrics, Vol. 163, Iss. 8, 2004-08 ,pp. : 467-471

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A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death

By Zhang Yanmin   Zhou Nan   Jiang Wenhui   Peng Jun   Wan Hongmei   Huang Chen   Xie Zenghui   Huang Christopher   Grace Andrew   Ma Aiqun  

European Journal of Pediatrics, Vol. 166, Iss. 9, 2007-09 ,pp. : 927-933

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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

By Haack Tobias  

Journal of Inherited Metabolic Disease, Vol. 35, Iss. 6, 2012-11 ,pp. : 943-948

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CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

By Vilaseca M.   Vilarinho L.   Zavadakova P.   Vela E.   Cleto E.   Pineda M.   Coimbra E.   Suormala T.   Fowler B.   Kozich V.  

Journal of Inherited Metabolic Disease, Vol. 26, Iss. 4, 2003-06 ,pp. : 361-369

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