検索結果 - Mefford, Heather C.

CNVs in Epilepsy 著者: Mefford, Heather C.

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Copy Number Matters in Epilepsy 著者: Mefford, Heather C.

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Clinical Genetic Testing in Epilepsy 著者: Mefford, Heather C.

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

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

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Phenotype to Genotype and Back Again 著者: Mefford, Heather C.

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

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Mosaicism in clinical genetics 著者: Mefford, Heather C.

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

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

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

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

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Epilepsy and the New Cytogenetics 著者: Mulley, John C, Mefford, Heather C

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

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

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

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

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

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

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

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