Research output per year
Research output per year
Personal profile
Academic discipline
MEDICAL GENETICS
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Dive into the research topics where Marcella Zollino is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Recent external collaboration on country level (based on research outputs with Scopus ID). Dive into details by clicking on the dots.
Research output
- 143 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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Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
Zollino, M., Ciaccio, C., Duga, V., Pantaleoni, C., Esposito, S., Moroni, I., Pinelli, M., Castello, R., Nigro, V., Chiapparini, L., D'Arrigo, S., Torella, A., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Capra, V., Leuzzi, V. & 11 others, , 2021, In: European Journal of Medical Genetics. 64, p. N/A-N/A 104116 p.Research output: Contribution to journal › Article › peer-review
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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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Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature
Delogu, A. B., De Rosa, G., Zollino, M., Zampino, G., Onesimo, R., Blandino, R., Leoni, C., Versacci, P., Pugnaloni, F., Calcagni, G., Digilio, M. C. & Marino, B., 2021, In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 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