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Laura Bernardini

Showing results (21-30 of 157) with videos related to

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Parkinsonism & Related Disorders|October 18, 2019
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3Mario Mastrangelo, Davide Mei, Serena Cesario, et al.
Journal of Pediatric Genetics|February 21, 2022
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)Mario Mastrangelo, Barbara Torres, Gloria De Vita, et al.
Clinical Dysmorphology|December 5, 2013
Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findingsMaria C Digilio, Laura Bernardini, Rossella Capolino, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Disomy of distal Xq in males: case report and overviewAntonio Novelli, Laura Bernardini, Damiano Carmelo Salpietro, et al.
Diagnostics (Basel, Switzerland)|December 1, 2020
Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual DisabilityGianmaria Miolo, Laura Bernardini, Anna Capalbo, et al.
Clinical Genetics|October 8, 2009
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 geneRenato Borgatti, Susan Marelli, Laura Bernardini, et al.
European Journal of Neurology|October 12, 2023
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencingAlessia Azzarà, Ilaria Cassano, Carla Lintas, et al.
European Journal of Human Genetics : EJHG|April 15, 2004
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian familyAntonio Novelli, Enza Maria Valente, Laura Bernardini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 29, 2013
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic featuresAgatino Battaglia, Viola Doccini, Laura Bernardini, et al.
Pageof 16

Showing results (21-30 of 157) with videos related to

Sort By:
Pageof 16
Parkinsonism & Related Disorders|October 18, 2019
A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3Mario Mastrangelo, Davide Mei, Serena Cesario, et al.
Journal of Pediatric Genetics|February 21, 2022
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)Mario Mastrangelo, Barbara Torres, Gloria De Vita, et al.
Clinical Dysmorphology|December 5, 2013
Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findingsMaria C Digilio, Laura Bernardini, Rossella Capolino, et al.
American Journal of Medical Genetics. Part A|December 15, 2007
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genesLaura Bernardini, Chiara Palka, Caterina Ceccarini, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Disomy of distal Xq in males: case report and overviewAntonio Novelli, Laura Bernardini, Damiano Carmelo Salpietro, et al.
Diagnostics (Basel, Switzerland)|December 1, 2020
Identification of a De Novo Xq26.2 Microduplication Encompassing <i>FIRRE</i> Gene in a Child with Intellectual DisabilityGianmaria Miolo, Laura Bernardini, Anna Capalbo, et al.
Clinical Genetics|October 8, 2009
Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 geneRenato Borgatti, Susan Marelli, Laura Bernardini, et al.
European Journal of Neurology|October 12, 2023
A new gene for autosomal dominant facial palsy/migraine identified in a family by whole exome sequencingAlessia Azzarà, Ilaria Cassano, Carla Lintas, et al.
European Journal of Human Genetics : EJHG|April 15, 2004
Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian familyAntonio Novelli, Enza Maria Valente, Laura Bernardini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 29, 2013
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic featuresAgatino Battaglia, Viola Doccini, Laura Bernardini, et al.
Pageof 16