Hasil Pencarian - Melissa Nel

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  1. 1
    Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis

    Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis oleh Melissa Nel, Sharon Prince, Jeannine M. Heckmann

    Diterbitkan 2019-01-01
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  2. 2
    Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis

    Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis oleh Tarin A. Europa, Melissa Nel, Jeannine M. Heckmann

    Diterbitkan 2020-12-01
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  3. 3
    A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans

    A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans oleh Amokelani C. Mahungu, Nomakhosazana Monnakgotla, Melissa Nel, Jeannine M. Heckmann

    Diterbitkan 2022-03-01
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  4. 4
    Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis

    Using Whole Genome Sequencing in an African Subphenotype of Myasthenia Gravis to Generate a Pathogenetic Hypothesis oleh Melissa Nel, Nicola Mulder, Tarin A. Europa, Jeannine M. Heckmann

    Diterbitkan 2019-03-01
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  5. 5
    Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

    Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers oleh Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann, Junaid Gamieldien

    Diterbitkan 2018-06-01
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  6. 6
    Mitochondrial bioenergetics in ocular fibroblasts of two myasthenia gravis cases

    Mitochondrial bioenergetics in ocular fibroblasts of two myasthenia gravis cases oleh Tarin A. Europa, Melissa Nel, Maribanyana R. Lebeko, Jeannine M. Heckmann

    Diterbitkan 2022-06-01
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  7. 7
    The Epidemiology and Phenotypes of Ocular Manifestations in Childhood and Juvenile Myasthenia Gravis: A Review

    The Epidemiology and Phenotypes of Ocular Manifestations in Childhood and Juvenile Myasthenia Gravis: A Review oleh Jeannine M. Heckmann, Jeannine M. Heckmann, Tarin A. Europa, Tarin A. Europa, Aayesha J. Soni, Melissa Nel

    Diterbitkan 2022-02-01
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  8. 8
    The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia

    The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia oleh Amokelani C. Mahungu, Amokelani C. Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A. Wilson, Jana Vandrovcova, Mary M. Reilly, Christopher J. Record, Michael Benatar, Gang Wu, Sharika Raga, Sharika Raga, Jo M. Wilmshurst, Jo M. Wilmshurst, Kireshnee Naidu, Michael Hanna, Michael Hanna, Melissa Nel, Melissa Nel, Jeannine M. Heckmann, Jeannine M. Heckmann

    Diterbitkan 2023-08-01
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  9. 9
    Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans

    Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans oleh Melissa Nel, Thandeka Mavundla, Kayleigh Gultig, Gerrit Botha, Nicola Mulder, Michael Benatar, Joanne Wuu, Anne Cooley, Jason Myers, Evadnie Rampersaud, Gang Wu, Jeannine M. Heckmann

    Diterbitkan 2021-06-01
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  10. 10
    Broad Brush Surveys: a rapid qualitative assessment approach for water and sanitation infrastructure in urban sub-Saharan cities

    Broad Brush Surveys: a rapid qualitative assessment approach for water and sanitation infrastructure in urban sub-Saharan cities oleh Melissa Nel, Melvin Simuyaba, Justina Muchelenje, Taonga Chirwa, Musonda Simwinga, Vanessa Speight, Zenzile Mhlanga, Heinz Jacobs, Nicole Nel, Janet Seeley, Erastus Mwanaumo, Lario Viljoen, Graeme Hoddinott, Virginia Bond, Virginia Bond

    Diterbitkan 2023-11-01
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  11. 11
    Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

    Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group oleh Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard, Guida Landouré, as members of the Rare Disease Working Group of the H3Africa Consortium

    Diterbitkan 2022-06-01
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