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Francesca Romana Lepri

Showing results (1-10 of 53) with videos related to

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Frontiers in Endocrinology|April 15, 2022
Hypoglycaemia Metabolic Gene Panel TestingArianna Maiorana, Francesca Romana Lepri, Antonio Novelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2016
Congenital heart defects in Noonan syndrome and RIT1 mutationGiulio Calcagni, Anwar Baban, Francesca Romana Lepri, et al.
International Journal of Molecular Sciences|April 17, 2019
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged PituitaryLaura Penta, Carla Bizzarri, Michela Panichi, et al.
American Journal of Medical Genetics. Part A|June 7, 2005
Hyperthrophic cardiomyopathy and the PTPN11 geneAnna Sarkozy, Emanuela Conti, Francesca Romana Lepri, et al.
Frontiers in Endocrinology|April 10, 2024
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variantSilvia Ventresca, Francesca Romana Lepri, Sabrina Criscuolo, et al.
Hormones (Athens, Greece)|April 20, 2021
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literatureEvelina Maines, Roberto Franceschi, Diego Martinelli, et al.
Prenatal Diagnosis|November 17, 2025
Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2BFrancesca Romana Lepri, Ludovico Graziani, Lucia Menale, et al.
American Journal of Medical Genetics. Part A|March 22, 2021
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counselingMattia Gentile, Tiziana Fanelli, Francesca Romana Lepri, et al.
The Journal of Pediatrics|December 10, 2013
Corneal arcus as first sign of familial hypercholesterolemiaMarina Macchiaiolo, Paola Sabrina Buonuomo, Paola Valente, et al.
Molecular Genetics & Genomic Medicine|March 15, 2018
Neurobehavioral features in individuals with Kabuki syndromeCristina Caciolo, Paolo Alfieri, Giorgia Piccini, et al.
Pageof 6

Showing results (1-10 of 53) with videos related to

Sort By:
Pageof 6
Frontiers in Endocrinology|April 15, 2022
Hypoglycaemia Metabolic Gene Panel TestingArianna Maiorana, Francesca Romana Lepri, Antonio Novelli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2016
Congenital heart defects in Noonan syndrome and RIT1 mutationGiulio Calcagni, Anwar Baban, Francesca Romana Lepri, et al.
International Journal of Molecular Sciences|April 17, 2019
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged PituitaryLaura Penta, Carla Bizzarri, Michela Panichi, et al.
American Journal of Medical Genetics. Part A|June 7, 2005
Hyperthrophic cardiomyopathy and the PTPN11 geneAnna Sarkozy, Emanuela Conti, Francesca Romana Lepri, et al.
Frontiers in Endocrinology|April 10, 2024
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variantSilvia Ventresca, Francesca Romana Lepri, Sabrina Criscuolo, et al.
Hormones (Athens, Greece)|April 20, 2021
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literatureEvelina Maines, Roberto Franceschi, Diego Martinelli, et al.
Prenatal Diagnosis|November 17, 2025
Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2BFrancesca Romana Lepri, Ludovico Graziani, Lucia Menale, et al.
American Journal of Medical Genetics. Part A|March 22, 2021
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counselingMattia Gentile, Tiziana Fanelli, Francesca Romana Lepri, et al.
The Journal of Pediatrics|December 10, 2013
Corneal arcus as first sign of familial hypercholesterolemiaMarina Macchiaiolo, Paola Sabrina Buonuomo, Paola Valente, et al.
Molecular Genetics & Genomic Medicine|March 15, 2018
Neurobehavioral features in individuals with Kabuki syndromeCristina Caciolo, Paolo Alfieri, Giorgia Piccini, et al.
Pageof 6