• 10246 Citations
  • 47 h-Index
1990 …2019
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Research Output 1990 2019

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Chapter
2009
11 Citations (Scopus)

LEOPARD syndrome: Clinical aspects and molecular pathogenesis

Sarkozy, A., Digilio, M. C., Zampino, G., Dallapiccola, B., Tartaglia, M. & Gelb, B. D., 2009, Monographs in Human Genetics. Vol. 17. p. 55-65 11 p. (Monographs in Human Genetics; vol. 17).

Research output: Chapter in Book/Report/Conference proceedingChapter

LEOPARD Syndrome
Noonan Syndrome
Lentigo
Protein Kinases
Mutation
6 Citations (Scopus)

Molecular genetics of Noonan syndrome

Tartaglia, M. & Gelb, B. D., 2009, Monographs in Human Genetics. Vol. 17. p. 20-39 20 p. (Monographs in Human Genetics; vol. 17).

Research output: Chapter in Book/Report/Conference proceedingChapter

Noonan Syndrome
Molecular Biology
Mutation
Missense Mutation
LEOPARD Syndrome
2007

Noonan Syndrome and PTPN11 Mutations

Tartaglia, M. & Gelb, B. D., Nov 16 2007, Cardiovascular Development and Congenital Malformations: Molecular & Genetic Mechanisms. Blackwell Publishing Ltd, p. 263-272 10 p.

Research output: Chapter in Book/Report/Conference proceedingChapter