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Margherita Marchi

15

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234

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Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.

2020 PLOS ONE
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Computational Pipeline to probe NaV1.7 gain-of-functions variants in neuropathic painful syndromes.

2020 arXiv: Soft Condensed Matter
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Computational pipeline to probe NaV1.7 gain-of-function variants in neuropathic painful syndromes.

2020 Scientific Reports
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Diagnostic criteria for small fibre neuropathy in clinical practice and research

2019 Brain
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Performance testing and components characterization for Martian drone prototype

2019
- Margherita Marchi
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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

2010 BMC Medical Genetics
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Familial Ohtahara Syndrome Due to a Novel ARX Gene Mutation

2010 American Journal of Medical Genetics Part A
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MeCP2 investigation in a wide cohort of italian Rett patients and array methylation assay in six cases sharing the 1164_1027del44 MeCP2 mutation

2009
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Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

2009 Neurogenetics
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A CDKL5 mutated child with precocious puberty

2009 American Journal of Medical Genetics Part A
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Citations (22)