Research output per year
Research output per year
Personal profile
Academic discipline
MEDICAL GENETICS
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Dive into the research topics where Giuseppe Marangi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 78 Article
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Zollino, M., Marangi, G., Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y. & 84 others, , 2021, In: American Journal of Human Genetics. 108, p. 2006-2016 11 p.Research output: Contribution to journal › Article
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CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype
Zollino, M., Marangi, G., Currò, A., Doddato, G., Bruttini, M., Zappella, M., Renieri, A. & Pinto, A. M., 2021, In: European Journal of Medical Genetics. 64, p. 104102-N/AResearch output: Contribution to journal › Article
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Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
Tabolacci, E., Marangi, G., Arena, V., Vento, G., Genuardi, M., Nobile, V., Tana, M., Molinario, C., Mendes, MI., Smith, DEC., Salomons, GS. & Costa, S., 2021, In: Clinical Genetics. 2021, p. 601-603 3 p.Research output: Contribution to journal › Article
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Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis
Lattante, S., Doronzio, P. N., Marangi, G., Zollino, M., Sabatelli, M., Martello, F., Meleo, E., Romano, A., Colavito, D. & Del Giudice, E., 2021, In: HUMAN MOLECULAR GENETICS. 2021, p. 65-71 7 p.Research output: Contribution to journal › Article › peer-review
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Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Frangella, S., Marangi, G., Lattante, S., Doronzio, P. N., Zampino, G., Zollino, M., Amenta, S., Veredice, C., Contaldo, I., Gentile, M., Gentile, M., Scarano, E. & Graziano, C., 2020, In: JOURNAL OF MEDICAL GENETICS. p. N/A-N/AResearch output: Contribution to journal › Article › peer-review