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Fiorenza Soli

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

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American Journal of Medical Genetics. Part A|December 8, 2006
Terminal osseous dysplasia with pigmentary defects: clinical description of a new familyAnna Baroncini, Pia Castelluccio, Manuela Morleo, 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.
Clinical Epigenetics|March 23, 2022
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progenyPierpaola Tannorella, Luciano Calzari, Cecilia Daolio, et al.
Plos One|June 22, 2012
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sElena Rossi, Roberto Giorda, Maria Clara Bonaglia, et al.
Genes, Chromosomes & Cancer|August 24, 2021
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type IMatteo Riva, Davide Martorana, Vera Uliana, et al.
Human Genetics|February 28, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeMaria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, et al.
Human Mutation|November 10, 2018
Small supernumerary marker chromosomes: A legacy of trisomy rescue?Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, et al.
Human Mutation|June 19, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
Pageof 1

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

Sort By:
Pageof 1
American Journal of Medical Genetics. Part A|December 8, 2006
Terminal osseous dysplasia with pigmentary defects: clinical description of a new familyAnna Baroncini, Pia Castelluccio, Manuela Morleo, 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.
Clinical Epigenetics|March 23, 2022
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progenyPierpaola Tannorella, Luciano Calzari, Cecilia Daolio, et al.
Plos One|June 22, 2012
De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)sElena Rossi, Roberto Giorda, Maria Clara Bonaglia, et al.
Genes, Chromosomes & Cancer|August 24, 2021
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type IMatteo Riva, Davide Martorana, Vera Uliana, et al.
Human Genetics|February 28, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeMaria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, et al.
Human Mutation|November 10, 2018
Small supernumerary marker chromosomes: A legacy of trisomy rescue?Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, et al.
Human Mutation|June 19, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndromeFrancesca Piceci-Sparascio, Lucia Micale, Barbara Torres, et al.
The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.
Pageof 1