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Francesco Benedicenti

Showing results (1-10 of 33) with videos related to

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Human Mutation|December 17, 2008
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD geneElena Botta, Tiziana Nardo, Donata Orioli, et al.
Molecular Genetics & Genomic Medicine|March 21, 2020
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutationBettina Härter, Francesco Benedicenti, Daniela Karall, et al.
Clinical Parkinsonism & Related Disorders|June 6, 2025
An unusual presentation of Huntington's disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literatureNicolas De Cleene, Federico Carbone, Clancy Cerejo, et al.
Human Mutation|October 19, 2022
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophyManuela Lanzafame, Tiziana Nardo, Roberta Ricotti, et al.
Gene|October 8, 2013
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studiesLucia Mauri, Luca Barone, Muna Al Oum, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy TrialDitta Zobor, Annette Werner, Franco Stanzial, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletionFrancesca Novara, Franco Stanzial, Elena Rossi, et al.
International Journal of Molecular Sciences|November 11, 2022
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in <i>SZT2</i> GeneCecilia Cattelani, Ingrid Battistella, Francesca Di Leva, et al.
Case Reports in Genetics|June 14, 2013
Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypesFrancesca Malvestiti, Francesco Benedicenti, Simona De Toffol, et al.
BMC Medicine|April 14, 2024
Olfactory bulb anomalies in KBG syndrome mouse model and patientsKara Goodkey, Anita Wischmeijer, Laurence Perrin, et al.
Pageof 4

Showing results (1-10 of 33) with videos related to

Sort By:
Pageof 4
Human Mutation|December 17, 2008
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD geneElena Botta, Tiziana Nardo, Donata Orioli, et al.
Molecular Genetics & Genomic Medicine|March 21, 2020
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutationBettina Härter, Francesco Benedicenti, Daniela Karall, et al.
Clinical Parkinsonism & Related Disorders|June 6, 2025
An unusual presentation of Huntington's disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literatureNicolas De Cleene, Federico Carbone, Clancy Cerejo, et al.
Human Mutation|October 19, 2022
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophyManuela Lanzafame, Tiziana Nardo, Roberta Ricotti, et al.
Gene|October 8, 2013
SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studiesLucia Mauri, Luca Barone, Muna Al Oum, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy TrialDitta Zobor, Annette Werner, Franco Stanzial, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletionFrancesca Novara, Franco Stanzial, Elena Rossi, et al.
International Journal of Molecular Sciences|November 11, 2022
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in <i>SZT2</i> GeneCecilia Cattelani, Ingrid Battistella, Francesca Di Leva, et al.
Case Reports in Genetics|June 14, 2013
Recombinant chromosome 4 from a familial pericentric inversion: prenatal and adulthood wolf-hirschhorn phenotypesFrancesca Malvestiti, Francesco Benedicenti, Simona De Toffol, et al.
BMC Medicine|April 14, 2024
Olfactory bulb anomalies in KBG syndrome mouse model and patientsKara Goodkey, Anita Wischmeijer, Laurence Perrin, et al.
Pageof 4