Targeted re-sequencing in pediatric and perinatal stroke
2020 · European Journal of Medical Genetics · 20 citations
https://doi.org/10.1016/j.ejmg.2020.104030
M
Marta Rusmini
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17
h-index
21
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Marta Rusmini is an academic researcher from Istituto Giannina Gaslini. The author has contributed to research in topics: Immunodeficiency and Autoimmune Disorders & Congenital gastrointestinal and neural anomalies & Inflammasome and immune disorders. The author has an h-index of 17, co-authored 41 publications.
ORCID: 0000-0002-3109-413XPapers by this author
worksABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum
2018 · European Journal of Paediatric Neurology · 17 citations
https://doi.org/10.1016/j.ejpn.2018.04.002
Severe erytrodermic psoriasis and arthritis as clinical presentation of a CARD14-mediated psoriasis (CAMPS)
2015 · Pediatric Rheumatology · 1 citations
https://doi.org/10.1186/1546-0096-13-s1-p57
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene
2024 · International Journal of Molecular Sciences · 0 citations
https://doi.org/10.3390/ijms25042083
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