يعرض 1 - 3 نتائج من 3 نتيجة بحث عن '"Rosciolli, T"', وقت الاستعلام: 0.74s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

    المؤلفون: Lee, RG, Balasubramaniam, S, Stentenbach, M, Kralj, T, McCubbin, T, Padman, B, Smith, J, Riley, LG, Priyadarshi, A, Peng, L, Nuske, MR, Webster, R, Peacock, K, Roberts, P, Stark, Z, Lemire, G, Ito, YA, Boycott, KM, Geraghty, MT, Klinken, JB, Ferdinandusse, S, Zhou, Y, Walsh, R, Marcellin, E, Thorburn, DR, Rosciolli, T, Fletcher, J, Rackham, O, Vaz, FM, Reid, GE, Filipovska, A

    العلاقة: pii: 6526744; Lee, R. G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L. G., Priyadarshi, A., Peng, L., Nuske, M. R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y. A., Boycott, K. M., Geraghty, M. T. ,. Filipovska, A. (2022). Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. HUMAN MOLECULAR GENETICS, 31 (21), pp.3597-3612. https://doi.org/10.1093/hmg/ddac040Test.; http://hdl.handle.net/11343/333188Test

    الإتاحة: https://doi.org/10.1093/hmg/ddac040Test
    http://hdl.handle.net/11343/333188Test

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  2. 2
    دورية أكاديمية
    Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

    المؤلفون: Lee, R.G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L.G., Priyadarshi, A., Peng, L.Y., Nuske, M.R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y.A., Boycott, K.M., Geraghty, M.T., Klinken, J.B., Ferdinandusse, S., Zhou, Y., Walsh, R., Marcellin, E., Thorburn, D.R., Rosciolli, T., Fletcher, J., Rackham, O., Vaz, F.M., Reid, G.E., Filipovska, A., Care4Rare Canada Consortium

    المصدر: Human Molecular Genetics

    وصف الملف: application/pdf

    العلاقة: lumc-id: 177456148; https://hdl.handle.net/1887/3564811Test

    الإتاحة: https://doi.org/10.1093/hmg/ddac040Test
    https://hdl.handle.net/1887/3564811Test

    View record in BASE

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  3. 3
    Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

    المؤلفون: Lee, R.G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L.G., Priyadarshi, A., Peng, L.Y., Nuske, M.R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y.A., Boycott, K.M., Geraghty, M.T., Klinken, J.B., Ferdinandusse, S., Zhou, Y., Walsh, R., Marcellin, E., Thorburn, D.R., Rosciolli, T., Fletcher, J., Rackham, O., Vaz, F.M., Reid, G.E., Filipovska, A., Care4Rare Canada Consortium

    المساهمون: Laboratory Genetic Metabolic Diseases, Laboratory for General Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, APH - Methodology, APH - Personalized Medicine

    المصدر: Human Molecular Genetics, 31(21), 3597-3612. OXFORD UNIV PRESS
    Human molecular genetics, 31(21), 3597-3612. Oxford University Press

    مصطلحات موضوعية: Proteomics, Brain Diseases, Mitochondrial Diseases, Mitochondrial Diseases/metabolism, Cardiolipins, Brain Diseases/metabolism, General Medicine, Mitochondria, Mice, Cardiolipins/genetics, Genetics, Animals, Mitochondria/genetics, Molecular Biology, Genetics (clinical)

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e79bac1d14fa395f9b21de73859fd0Test
    https://pubmed.ncbi.nlm.nih.gov/36563328Test


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