Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
2022 · Orphanet Journal of Rare Diseases · 32 citations
https://doi.org/10.1186/s13023-022-02179-y
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Silvia Kalantari
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Silvia Kalantari is an academic researcher from University of Pavia. The author has contributed to research in topics: Genomics and Rare Diseases & Genetic and Kidney Cyst Diseases & Renal and related cancers. The author has an h-index of 9, co-authored 30 publications.
ORCID: 0000-0002-9459-9741Papers by this author
worksThe European Society of Human Genetics—Young committee- activities and achievements between 2019–2022
2023 · European Journal of Human Genetics · 5 citations
https://doi.org/10.1038/s41431-023-01300-4
The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022
2023 · European Journal of Human Genetics · 5 citations
https://doi.org/10.1038/s41431-023-01300-4
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
2023 · BMC Medical Genomics · 1 citations
https://doi.org/10.1186/s12920-023-01747-w
Additional file 1 of Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
2022 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.19112764
Pulmonary Arterial Hypertension Onset in an Adult Woman With a <scp> <i>TBX4</i> </scp> Likely Pathogenic Variant Following Imatinib Administration: A Case Report
2025 · American Journal of Medical Genetics Part A · 0 citations
https://doi.org/10.1002/ajmg.a.64178
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