Search Results - "Munimanda, Gopikrishna"

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    Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family by Devi, Akela Radha Rama, Gopikrishna, Munimanda, Ratheesh, Raman, Savithri, Gorinabele, Swarnalata, Gowrishankar, Bashyam, Murali

    Published in Journal of human genetics (01-09-2006)
    “…Farber disease is a rare lysosomal storage disorder caused by a deficiency of the acid ceramidase enzyme, leading to the accumulation of ceramide in various…”
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    Journal Article
  3. 3

    Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene by Bashyam, Murali Dharan, Bashyam, Leena, Savithri, Gorinabele R, Gopikrishna, Munimanda, Sangal, Vartul, Devi, Akela Radha Rama

    Published in Journal of human genetics (01-08-2004)
    “…beta-Thalassemia is the most prevalent single-gene disorder. Since no viable forms of treatment are available, the best course is prevention through prenatal…”
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    Journal Article
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    A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family by Bashyam, Murali D., PhD, Savithri, Gorinabele R., MSc, Gopikrishna, Munimanda, MSc, Narasimhan, Calambur, MD

    Published in Canadian journal of cardiology (01-08-2007)
    “…Familial hypertrophic cardiomyopathy is an autosomal dominant genetic disorder characterized mainly by left ventricular hypertrophy and myocyte disarray; it is…”
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    Journal Article