• 125 Citations
  • 5 h-Index
20142019
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Fingerprint Dive into the research topics where Maria Gnazzo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Mutation Medicine & Life Sciences
Coccyx Medicine & Life Sciences
Noonan Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Exons Medicine & Life Sciences
Hyperlipoproteinemia Type II Medicine & Life Sciences
Burkitt Lymphoma Medicine & Life Sciences
Genetic Heterogeneity Medicine & Life Sciences

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Research Output 2014 2019

  • 125 Citations
  • 5 h-Index
  • 11 Article

Novel Mutations and Unreported Clinical Features in KBG Syndrome

Scarano, E., Tassone, M., Graziano, C., Gibertoni, D., Tamburrino, F., Perri, A., Gnazzo, M., Severi, G., Lepri, F. & Mazzanti, L., May 2019, In : Molecular Syndromology. 10, 3, p. 130-138 9 p.

Research output: Contribution to journalArticle

Mutation
Joints
KBG syndrome
Exome
Point Mutation
Burkitt Lymphoma
Mutation
Neoplasms
Modifier Genes
Genes

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

De Bernardi, M. L., Ivanovski, I., Caraffi, S. G., Maini, I., Street, M. E., Bayat, A., Zollino, M., Lepri, F. R., Gnazzo, M., Errichiello, E., Superti-Furga, A. & Garavelli, L., Sep 1 2018, In : American Journal of Medical Genetics, Part A. 176, 9, p. 1991-1995 5 p.

Research output: Contribution to journalArticle

Coccyx
Mutation
Exons
Ankyrin Repeat
Exome

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11

De Bernardi, M. L., Ivanovski, I., Caraffi, S. G., Maini, I., Street, M. E., Bayat, A., Zollino, M., Lepri, F. R., Gnazzo, M., Errichiello, E., Superti-Furga, A. & Garavelli, L., Sep 2018, In : American Journal of Medical Genetics, Part A. 176, 9, p. 1991-1995 5 p.

Research output: Contribution to journalArticle

Coccyx
Exons
Mutation
Ankyrin Repeat
Exome
Hyperlipoproteinemia Type II
Blood Component Removal
LDL Cholesterol
Pediatrics
Cardiovascular Diseases