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Alessandro De Luca

Showing results (161-170 of 192) with videos related to

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Genes|April 1, 2020
DNA Methylation in the Diagnosis of Monogenic DiseasesFlavia Cerrato, Angela Sparago, Francesca Ariani, et al.
American Journal of Human Genetics|September 9, 2022
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary ciliaAsier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastomaLivia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
International Journal of Molecular Sciences|February 3, 2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)Valentina Guida, Luciano Calzari, Maria Teresa Fadda, et al.
Genes|September 7, 2019
Prevalence, Type, and Molecular Spectrum of <i>NF1</i> Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart DiseaseValentina Pinna, Paola Daniele, Giulio Calcagni, et al.
European Journal of Human Genetics : EJHG|October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsideredJulia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, 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.
American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.
Pageof 20

Showing results (161-170 of 192) with videos related to

Sort By:
Pageof 20
Genes|April 1, 2020
DNA Methylation in the Diagnosis of Monogenic DiseasesFlavia Cerrato, Angela Sparago, Francesca Ariani, et al.
American Journal of Human Genetics|September 9, 2022
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary ciliaAsier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastomaLivia Garavelli, Viviana Cordeddu, Stefania Errico, et al.
International Journal of Molecular Sciences|February 3, 2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)Valentina Guida, Luciano Calzari, Maria Teresa Fadda, et al.
Genes|September 7, 2019
Prevalence, Type, and Molecular Spectrum of <i>NF1</i> Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart DiseaseValentina Pinna, Paola Daniele, Giulio Calcagni, et al.
European Journal of Human Genetics : EJHG|October 21, 2020
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsideredJulia Brinkmann, Christina Lissewski, Valentina Pinna, et al.
European Journal of Human Genetics : EJHG|February 28, 2019
Evolutionary conserved networks of human height identify multiple Mendelian causes of short statureNadine N Hauer, Bernt Popp, Leila Taher, et al.
European Journal of Human Genetics : EJHG|August 14, 2020
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsChristina Lissewski, Valérie Chune, Francesca Pantaleoni, 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.
American Journal of Human Genetics|July 13, 2010
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotypeSimone Martinelli, Alessandro De Luca, Emilia Stellacci, et al.
Pageof 20