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Lidia Larizza

Showing results (81-90 of 150) with videos related to

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Carcinogenesis|September 11, 2019
Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cellsIlaria Dutto, Claudia Scalera, Micol Tillhon, 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.
Cancer Research|April 17, 2002
The High Mobility Group A2 gene is amplified and overexpressed in human prolactinomasPalma Finelli, Giovanna Maria Pierantoni, Daniela Giardino, et al.
Epigenetics|April 24, 2014
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsIlaria Parenti, Davide Rovina, Maura Masciadri, et al.
Orphanet Journal of Rare Diseases|October 9, 2016
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutationsElisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, et al.
Human Molecular Genetics|April 2, 2003
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletionsGiorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, et al.
European Journal of Human Genetics : EJHG|February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisCristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 22, 2024
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndromeFrancesca Cogliati, Letizia Straniero, Valeria Rimoldi, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Prevalence of Beckwith-Wiedemann syndrome in North West of ItalyAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Frontiers in Pediatrics|June 14, 2019
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and <i>ESCO2</i> MutationsElisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, et al.
Pageof 15

Showing results (81-90 of 150) with videos related to

Sort By:
Pageof 15
Carcinogenesis|September 11, 2019
Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cellsIlaria Dutto, Claudia Scalera, Micol Tillhon, 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.
Cancer Research|April 17, 2002
The High Mobility Group A2 gene is amplified and overexpressed in human prolactinomasPalma Finelli, Giovanna Maria Pierantoni, Daniela Giardino, et al.
Epigenetics|April 24, 2014
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsIlaria Parenti, Davide Rovina, Maura Masciadri, et al.
Orphanet Journal of Rare Diseases|October 9, 2016
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutationsElisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, et al.
Human Molecular Genetics|April 2, 2003
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletionsGiorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, et al.
European Journal of Human Genetics : EJHG|February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisCristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 22, 2024
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndromeFrancesca Cogliati, Letizia Straniero, Valeria Rimoldi, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Prevalence of Beckwith-Wiedemann syndrome in North West of ItalyAlessandro Mussa, Silvia Russo, Agostina De Crescenzo, et al.
Frontiers in Pediatrics|June 14, 2019
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and <i>ESCO2</i> MutationsElisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, et al.
Pageof 15