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Francesca Pantaleoni

Showing results (31-40 of 49) with videos related to

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Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.
Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.
European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, 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.
American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.
Neurology|July 1, 2018
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohortAlexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Frontiers in Immunology|August 15, 2022
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?Maria Chiriaco, Giorgiana Madalina Ursu, Donato Amodio, et al.
Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.
Human Mutation|January 12, 2017
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan SyndromeLuca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, et al.
European Journal of Human Genetics : EJHG|June 9, 2017
Genotype and phenotype spectrum of NRAS germline variantsFranziska Altmüller, Christina Lissewski, Debora Bertola, 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.
American Journal of Human Genetics|November 13, 2020
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal NeurodevelopmentCatherine Rodger, Elisabetta Flex, Rachel J Allison, et al.
Neurology|July 1, 2018
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Elisabetta Flex, Zachary Kupchinsky, et al.
Human Mutation|March 10, 2011
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlationsFrancesca Lepri, Alessandro De Luca, Lorenzo Stella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2021
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohortAlexandra Scott, Niccolò Di Giosaffatte, Valentina Pinna, et al.
Frontiers in Immunology|August 15, 2022
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?Maria Chiriaco, Giorgiana Madalina Ursu, Donato Amodio, et al.
Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.
Pageof 5