Ngā hua rapu - Mefford, Heather C. 

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  1. 1
    CNVs in Epilepsy

    CNVs in Epilepsy mā Mefford, Heather C.

    I whakaputaina 2014
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  2. 2
    Copy Number Matters in Epilepsy

    Copy Number Matters in Epilepsy mā Mefford, Heather C.

    I whakaputaina 2015
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  3. 3
    Clinical Genetic Testing in Epilepsy

    Clinical Genetic Testing in Epilepsy mā Mefford, Heather C.

    I whakaputaina 2015
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  4. 4
    Copy number variants in the population: unselected does not mean unaffected

    Copy number variants in the population: unselected does not mean unaffected mā Mefford, Heather C.

    I whakaputaina 2016
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  5. 5
    The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy

    The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy mā Mefford, Heather C.

    I whakaputaina 2019
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  6. 6
    Phenotype to Genotype and Back Again

    Phenotype to Genotype and Back Again mā Mefford, Heather C.

    I whakaputaina 2020
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  7. 7
    Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery

    Antiepileptic Drugs as Teratogens: The Mechanism Remains a Mystery mā Mefford, Heather C.

    I whakaputaina 2020
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  8. 8
    Mosaicism in clinical genetics

    Mosaicism in clinical genetics mā Mefford, Heather C.

    I whakaputaina 2021
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  9. 9
    Advancing epilepsy genetics in the genomic era

    Advancing epilepsy genetics in the genomic era mā Myers, Candace T., Mefford, Heather C.

    I whakaputaina 2015
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  10. 10
    Recent advances in epilepsy genomics and genetic testing

    Recent advances in epilepsy genomics and genetic testing mā Hebbar, Malavika, Mefford, Heather C.

    I whakaputaina 2020
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  11. 11
    Duplication Hotspots, Rare Genomic Disorders and Common Disease

    Duplication Hotspots, Rare Genomic Disorders and Common Disease mā Mefford, Heather C., Eichler, Evan E.

    I whakaputaina 2009
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  12. 12
    Genetically complex epilepsies, copy number variants and syndrome constellations

    Genetically complex epilepsies, copy number variants and syndrome constellations mā Mefford, Heather C, Mulley, John C

    I whakaputaina 2010
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  13. 13
    Epilepsy and the New Cytogenetics

    Epilepsy and the New Cytogenetics mā Mulley, John C, Mefford, Heather C

    I whakaputaina 2011
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  14. 14
    Next-Generation Sequencing in Intellectual Disability

    Next-Generation Sequencing in Intellectual Disability mā Carvill, Gemma L., Mefford, Heather C.

    I whakaputaina 2015
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  15. 15
    Poison exons in neurodevelopment and disease

    Poison exons in neurodevelopment and disease mā Carvill, Gemma L, Mefford, Heather C

    I whakaputaina 2020
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  16. 16
    Diagnostic Considerations in the Epilepsies—Testing Strategies, Test Type Advantages, and Limitations

    Diagnostic Considerations in the Epilepsies—Testing Strategies, Test Type Advantages, and Limitations mā Chen, Wei-Liang, Mefford, Heather C.

    I whakaputaina 2021
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  17. 17
    Genomics, Intellectual Disability, and Autism

    Genomics, Intellectual Disability, and Autism mā Mefford, Heather C., Batshaw, Mark L., Hoffman, Eric P.

    I whakaputaina 2012
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  18. 18
    Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele)

    Submicroscopic chromosome abnormalities associated with spina bifida (myelomeningocele) mā Doherty, Dan, Tsuchiya, Karen D, Mefford, Heather C, Shurtleff, David B

    I whakaputaina 2010
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  19. 19
    The Genetics of Microdeletion and Microduplication Syndromes: An Update

    The Genetics of Microdeletion and Microduplication Syndromes: An Update mā Watson, Corey T., Marques-Bonet, Tomas, Sharp, Andrew J., Mefford, Heather C.

    I whakaputaina 2014
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  20. 20
    Return of Individual Results in Epilepsy Genomic Research: A View from the Field

    Return of Individual Results in Epilepsy Genomic Research: A View from the Field mā Ottman, Ruth, Freyer, Catharine, Mefford, Heather C., Poduri, Annapurna, Lowenstein, Daniel H.

    I whakaputaina 2018
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