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Claudio Carta

Showing results (31-40 of 39) with videos related to

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Nature Genetics|December 5, 2006
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco Tartaglia, Len A Pennacchio, Chen Zhao, et al.
Frontiers in Medicine|October 13, 2022
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNETMatilde Bandeira, Federica Di Cianni, Diana Marinello, et al.
Human Mutation|February 12, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumAnna Sarkozy, Claudio Carta, Sonia Moretti, et al.
Nature Genetics|July 3, 2007
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati Pandit, Anna Sarkozy, Len A Pennacchio, et al.
International Journal of Environmental Research and Public Health|August 8, 2018
Recommendations for Improving the Quality of Rare Disease RegistriesYllka Kodra, Jérôme Weinbach, Manuel Posada-de-la-Paz, et al.
Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.
Frontiers in Public Health|October 12, 2023
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicatorsSavino Sciascia, Dario Roccatello, Marco Salvatore, et al.
Frontiers in Public Health|March 20, 2023
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network InternationalDomenica Taruscio, Marco Salvatore, Aimè Lumaka, et al.
Frontiers in Public Health|March 13, 2025
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutionsSimone Baldovino, Savino Sciascia, Claudio Carta, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
Nature Genetics|December 5, 2006
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeMarco Tartaglia, Len A Pennacchio, Chen Zhao, et al.
Frontiers in Medicine|October 13, 2022
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNETMatilde Bandeira, Federica Di Cianni, Diana Marinello, et al.
Human Mutation|February 12, 2009
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrumAnna Sarkozy, Claudio Carta, Sonia Moretti, et al.
Nature Genetics|July 3, 2007
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati Pandit, Anna Sarkozy, Len A Pennacchio, et al.
International Journal of Environmental Research and Public Health|August 8, 2018
Recommendations for Improving the Quality of Rare Disease RegistriesYllka Kodra, Jérôme Weinbach, Manuel Posada-de-la-Paz, et al.
Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.
Frontiers in Public Health|October 12, 2023
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicatorsSavino Sciascia, Dario Roccatello, Marco Salvatore, et al.
Frontiers in Public Health|March 20, 2023
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network InternationalDomenica Taruscio, Marco Salvatore, Aimè Lumaka, et al.
Frontiers in Public Health|March 13, 2025
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutionsSimone Baldovino, Savino Sciascia, Claudio Carta, et al.
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