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Laura Bernardini

Showing results (71-80 of 157) with videos related to

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American Journal of Medical Genetics. Part A|May 31, 2008
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 geneMaria Francesca Bedeschi, Antonio Novelli, Laura Bernardini, et al.
American Journal of Medical Genetics. Part A|January 26, 2025
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?Gioia Mastromoro, Daniele Guadagnolo, Francesca Gianno, et al.
European Journal of Medical Genetics|December 11, 2012
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosisMaria Cecilia D'Asdia, Isabella Torrente, Federica Consoli, et al.
Neurogenetics|August 18, 2014
DPP6 gene disruption in a family with Gilles de la Tourette syndromePaolo Prontera, Valerio Napolioni, Valentina Ottaviani, et al.
International Journal of Molecular Sciences|April 23, 2022
3-Methylglutaconic Aciduria Type I Due to <i>AUH</i> Defect: The Case Report of a Diagnostic Odyssey and a Review of the LiteratureFrancesca Nardecchia, Anna Caciotti, Teresa Giovanniello, et al.
Journal of Pediatric Genetics|September 10, 2021
De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple AnomaliesPaolo Fontana, Laura Bernardini, Cinzia Lombardi, et al.
Stem Cell Research|January 16, 2018
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)Jessica Rosati, Filomena Altieri, Silvia Tardivo, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Laura Bernardini, Viola Alesi, Sara Loddo, et al.
Diagnostics (Basel, Switzerland)|October 27, 2022
3'UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male FetusMaria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrumValentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, et al.
Pageof 16

Showing results (71-80 of 157) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|May 31, 2008
Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 geneMaria Francesca Bedeschi, Antonio Novelli, Laura Bernardini, et al.
American Journal of Medical Genetics. Part A|January 26, 2025
Cardiac Involvement and TBCK -Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?Gioia Mastromoro, Daniele Guadagnolo, Francesca Gianno, et al.
European Journal of Medical Genetics|December 11, 2012
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosisMaria Cecilia D'Asdia, Isabella Torrente, Federica Consoli, et al.
Neurogenetics|August 18, 2014
DPP6 gene disruption in a family with Gilles de la Tourette syndromePaolo Prontera, Valerio Napolioni, Valentina Ottaviani, et al.
International Journal of Molecular Sciences|April 23, 2022
3-Methylglutaconic Aciduria Type I Due to <i>AUH</i> Defect: The Case Report of a Diagnostic Odyssey and a Review of the LiteratureFrancesca Nardecchia, Anna Caciotti, Teresa Giovanniello, et al.
Journal of Pediatric Genetics|September 10, 2021
De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple AnomaliesPaolo Fontana, Laura Bernardini, Cinzia Lombardi, et al.
Stem Cell Research|January 16, 2018
Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)Jessica Rosati, Filomena Altieri, Silvia Tardivo, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Laura Bernardini, Viola Alesi, Sara Loddo, et al.
Diagnostics (Basel, Switzerland)|October 27, 2022
3'UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male FetusMaria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, et al.
American Journal of Medical Genetics. Part A|March 5, 2015
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrumValentina Guida, Lorenzo Sinibaldi, Mario Pagnoni, et al.
Pageof 16