• 2143 Citations
  • 19 h-Index
19942019
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Fingerprint Dive into the research topics where Francesco Calì is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles
Mutation Medicine & Life Sciences
Sicily Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenylketonurias Medicine & Life Sciences
Phenylalanine Hydroxylase Medicine & Life Sciences
Population Medicine & Life Sciences
Alleles Medicine & Life Sciences
Y Chromosome Medicine & Life Sciences

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Research Output 1994 2019

  • 2143 Citations
  • 19 h-Index
  • 65 Article
  • 1 Chapter
  • 1 Letter
3 Citations (Scopus)

Identification of human D lactate dehydrogenase deficiency

Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F. & 8 others, Bosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., Dec 1 2019, In : Nature Communications. 10, 1, 1477.

Research output: Contribution to journalArticle

Open Access
Forensic Anthropology
lactates
dehydrogenases
Lactic Acid
acidosis

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease

Cali, F., Cantone, M., Irene Ilaria Cosentino, F., Lanza, G., Ruggeri, G., Chiavetta, V., Salluzzo, R., Ragalmuto, A., Vinci, M. & Ferri, R., 2019, (Submitted) In : Journal of Parkinson's Disease.

Research output: Contribution to journalArticle

Parkinson Disease
Inventions
Inborn Genetic Diseases
Neurodegenerative Diseases
Genes
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation