Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

By Bauce B.  

Human Molecular Genetics, Vol. 10, Iss. 3, 2001-02 ,pp. : 189-194

Oxford University Press

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Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3054-3061

John Wiley & Sons Inc

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Identification of Three Mutations and Associated Haplotypes in the Protoporphyrinogen Oxidase Gene in South African Families with Variegate Porphyria

By Warnich Louise   Kotze Maritha J.   Groenewald Ilse M.   Groenewald Johannes Z.   van Brakel Maléne G.   van Heerden Carel J.   de Villiers J. Nico P.   van de Ven Wim J. M.   Schoenmakers Eric F.P.M.   Taketani Shigeru   Retief Andries E.  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 981-984

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Identification of Two Novel Mutations in the Hydroxymethylbilane Synthase Gene in Three Patients from Two Unrelated Families with Acute Intermittent Porphyria

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Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

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Human Molecular Genetics, Vol. 13, Iss. 3, 2004-02 ,pp. : 315-322

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