Ospedale Pediatrico Bambino Gesu

Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Pediatrics Medicine & Life Sciences
Mutation Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Genes Medicine & Life Sciences
Italy Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Neoplasms Medicine & Life Sciences
Epilepsy Medicine & Life Sciences

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Projects 2018 2018

OSPEDALE BAMBINO GESU' - GENETICA E MALATTIE RARE IN PEDIATRIA

Ricerca, U.

1/1/1812/30/18

Project: Other project

Research Output 1964 2019

Acute Hemorrhagic Leukoencephalitis
Virus Diseases
Hepatitis B virus
Comorbidity
Encephalitis

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Motta, M., Sagi-Dain, L., Krumbach, O. H. F., Hahn, A., Peleg, A., German, A., Lissewski, C., Coppola, S., Pantaleoni, F., Kocherscheid, L., Altmüller, F., Schanze, D., Logeswaran, T., Chahrokh-Zadeh, S., Munzig, A., Nakhaei-Rad, S., Cavé, H., Ahmadian, M. R., Tartaglia, M. & Zenker, M., May 21 2019, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Noonan Syndrome
Hypertrophic Cardiomyopathy
Mutation
Phosphatidylinositol 3-Kinases
Codon
Flucytosine
Fluorouracil
Pseudomonas aeruginosa
Pharmaceutical Preparations
Growth