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
- 75 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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Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis
Doronzio, P. N., Marangi, G., Zollino, M., Sabatelli, M., Lattante, S., Martello, F., Meleo, E., Romano, A., Conte, A., Bisogni, G., Colavito, D., Del Giudice, E., Patanella, A. K. & Bernardo, D., 2021, In: HUMAN MOLECULAR GENETICS. p. N/A-N/AResearch output: Contribution to journal › Article
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Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
Frangella, S., Marangi, G., Doronzio, P. N., Zampino, G., Zollino, M., Amenta, S., Lattante, 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
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Clinical genetics can solve the pitfalls of genome-wide investigations: Lesson from mismapping a loss-of-function variant in KANSL1
Marangi, G., Frangella, S., Zollino, M., Panfili, A., Bigoni, S., Ognibene, D., Squeo, G. M. & Merla, G., 2020, In: Genes. 11, p. 1-6 6 p.Research output: Contribution to journal › Article
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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
Marangi, G., Garcovich, S., Di Sante, G., Frangella, S., Genuardi, M., Peris, K., Zollino, M., Scaldaferri, F. & Gurrieri, F., 2020, In: Acta Dermato-Venereologica. 100, p. adv00038-2 2 p.Research output: Contribution to journal › Article › peer-review
4 Citations (Scopus)