If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Maria Francesca Bedeschi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 18 Similar Profiles
Mutation Medicine & Life Sciences
Williams Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Methylation Medicine & Life Sciences
Rubinstein-Taybi Syndrome Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1997 2019

  • 1071 Citations
  • 17 h-Index
  • 84 Article
  • 1 Letter
Williams Syndrome
Bone Density
Phosphorus
Minerals
Bone and Bones

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Gnoli, M., Staals, E. L., Campanacci, L., Bedeschi, M. F., Faletra, F., Gallone, S., Gaudio, A., Mattina, T., Gurrieri, F., Percesepe, A., Neri, I., Virdi, A., Tremosini, M., Milanesi, A., Brizola, E., Pedrini, E. & Sangiorgi, L., Jan 1 2019, In : Calcified Tissue International. 105, 2, p. 215-221

Research output: Contribution to journalArticle

Open Access
Osteopoikilosis
Melorheostosis
Germ-Line Mutation
Mutation
Hyperostosis

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

Gnoli, M., Staals, E. L., Campanacci, L., Bedeschi, M. F., Faletra, F., Gallone, S., Gaudio, A., Mattina, T., Gurrieri, F., Percesepe, A., Neri, I., Virdi, A., Tremosini, M., Milanesi, A., Brizola, E., Pedrini, E. & Sangiorgi, L., May 25 2019, In : Calcified Tissue International. p. 1-7 7 p.

Research output: Contribution to journalArticle

Osteopoikilosis
Melorheostosis
Germ-Line Mutation
Mutation
Hyperostosis

Phenotype delineation of ZNF462 related syndrome

Kruszka, P., Hu, T., Hong, S., Signer, R., Cogné, B., Isidor, B., Mazzola, S. E., Giltay, J. C., van Gassen, K. L. I., England, E. M., Pais, L., Ockeloen, C. W., Sanchez-Lara, P. A., Kinning, E., Adams, D. J., Treat, K., Torres-Martinez, W., Bedeschi, M. F., Iascone, M., Blaney, S. & 12 others, Bell, O., Tan, T. Y., Delrue, M. A., Jurgens, J., Barry, B. J., Engle, E. C., Savage, S. K., Fleischer, N., Martinez-Agosto, J. A., Boycott, K., Zackai, E. H. & Muenke, M., Oct 1 2019, In : American journal of medical genetics. Part A. 179, 10, p. 2075-2082 8 p.

Research output: Contribution to journalArticle

Zinc Fingers
Phenotype
Proteins
Noonan Syndrome
Agenesis of Corpus Callosum

Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasia

Di Francesco, J. C., Isimbaldi, G., Bedeschi, M. F. & Castellotti, B., Jan 1 2018, In : BMJ Case Reports. 2018, 223390.

Research output: Contribution to journalArticle

Multiple Sclerosis
Biopsy
Hyperostosis
Cranial Nerves
Genetic Testing