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Francesco Benedicenti

Showing results (11-20 of 33) with videos related to

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Birth Defects Research. Part A, Clinical and Molecular Teratology|June 3, 2015
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencingElena Nicchia, Francesco Benedicenti, Daniela De Rocco, et al.
European Journal of Dermatology : EJD|April 30, 2011
Molecular characterization of 11 Italian patients with Darier diseaseLucia Pedace, Luana Barboni, Erika Pozzetto, et al.
Journal of Human Genetics|May 30, 2020
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotypeFederica Cesca, Elisa Bettella, Roberta Polli, et al.
Plos One|April 28, 2015
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 InhibitorsDaria C Loconte, Valentina Grossi, Cristina Bozzao, et al.
Seizure|March 1, 2019
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephalyFrancisco S Domingues, Eva König, Christine Schwienbacher, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutationsGen Nishimura, Jin Dai, Ekkehart Lausch, et al.
European Journal of Human Genetics : EJHG|January 1, 2018
Regulatory variants of FOXG1 in the context of its topological domain organisationMana M Mehrjouy, Ana Carolina S Fonseca, Nadja Ehmke, 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.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
American Journal of Medical Genetics. Part A|August 19, 2003
Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East ItalyIsabella Mammi, Mammi Isabella, Rosaria Teresa Basile, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Birth Defects Research. Part A, Clinical and Molecular Teratology|June 3, 2015
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencingElena Nicchia, Francesco Benedicenti, Daniela De Rocco, et al.
European Journal of Dermatology : EJD|April 30, 2011
Molecular characterization of 11 Italian patients with Darier diseaseLucia Pedace, Luana Barboni, Erika Pozzetto, et al.
Journal of Human Genetics|May 30, 2020
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotypeFederica Cesca, Elisa Bettella, Roberta Polli, et al.
Plos One|April 28, 2015
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 InhibitorsDaria C Loconte, Valentina Grossi, Cristina Bozzao, et al.
Seizure|March 1, 2019
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephalyFrancisco S Domingues, Eva König, Christine Schwienbacher, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutationsGen Nishimura, Jin Dai, Ekkehart Lausch, et al.
European Journal of Human Genetics : EJHG|January 1, 2018
Regulatory variants of FOXG1 in the context of its topological domain organisationMana M Mehrjouy, Ana Carolina S Fonseca, Nadja Ehmke, 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.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
American Journal of Medical Genetics. Part A|August 19, 2003
Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East ItalyIsabella Mammi, Mammi Isabella, Rosaria Teresa Basile, et al.
Pageof 4