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Fingerprint Dive into the research topics where Leda Paganini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Umbilical Hernia Medicine & Life Sciences
Mutation Medicine & Life Sciences
Mass Spectrometry Medicine & Life Sciences
Recessive Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry Medicine & Life Sciences

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Research Output 2017 2019

  • 7 Citations
  • 2 h-Index
  • 6 Article

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

Paganini, L., Hadi, L. A., Chetta, M., Rovina, D., Fontana, L., Colapietro, P., Bonaparte, E., Pezzani, L., Marchisio, P., Tabano, S. M., Costanza, J., Sirchia, S. M., Riboni, L., Milani, D. & Miozzo, M., 2019, In : Clinical Genetics. 95, 3, p. 368-374

Research output: Contribution to journalArticle

Myopia
Intellectual Disability
Exome
Genes
Phosphoadenosine Phosphosulfate
1 Citation (Scopus)

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

Paganini, L., Pesenti, C., Milani, D., Fontana, L., Motta, S., Sirchia, S. M., Scuvera, G., Marchisio, P., Esposito, S., Cinnante, C. M., Tabano, S. M. & Miozzo, M. R., 2018, In : American Journal of Medical Genetics, Part A. 176, 6, p. 1427-1431

Research output: Contribution to journalArticle

Recessive Genes
Inheritance Patterns
Exons
Aniridia
Exome
2 Citations (Scopus)

Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry

Bonaparte, E., Pesenti, C., Fontana, L., Falcone, R., Paganini, L., Marzorati, A., Ferrero, S., Nosotti, M., Mendogni, P., Bareggi, C., Sirchia, S. M., Tabano, S., Bosari, S. & Miozzo, M., Jan 12 2018, In : Diagnostic Pathology. 13, 1, 4.

Research output: Contribution to journalArticle

Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry
Lung Neoplasms
Mass Spectrometry
Biopsy
Mutation
3 Citations (Scopus)
Glioma
Mass Spectrometry
Chromosomes
Mutation
Chromosome Deletion
1 Citation (Scopus)

Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases

Bedeschi, M. F., Calvello, M., Paganini, L., Pezzani, L., Baccarin, M., Fontana, L., Sirchia, S. M., Guerneri, S., Canazza, L., Leva, E., Colombo, L., Lalatta, F., Mosca, F., Tabano, S. & Miozzo, M., Oct 18 2017, In : BMC Medical Genetics. 18, 1, 115.

Research output: Contribution to journalArticle

Umbilical Hernia
Beckwith-Wiedemann Syndrome
Methylation
Endophenotypes
Epigenomics