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Maria Cristina Digilio

Showing results (51-60 of 232) with videos related to

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American Journal of Medical Genetics. Part A|November 10, 2005
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defectsAnna Sarkozy, Giorgia Esposito, Emanuela Conti, et al.
Plant Molecular Biology Reporter|September 5, 2015
Prosystemin Overexpression in Tomato Enhances Resistance to Different Biotic Stresses by Activating Genes of Multiple Signaling PathwaysMariangela Coppola, Giandomenico Corrado, Valentina Coppola, et al.
The Journal of Pediatrics|May 21, 2003
Glutathione metabolism and antioxidant enzymes in children with Down syndromeAnna Pastore, Giulia Tozzi, Laura Maria Gaeta, et al.
American Journal of Medical Genetics. Part A|May 9, 2017
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphismMaria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
16p subtelomeric duplication: a clinically recognizable syndromeMaria Cristina Digilio, Laura Bernardini, Anna Capalbo, et al.
Molecular Genetics & Genomic Medicine|March 15, 2018
Neurobehavioral features in individuals with Kabuki syndromeCristina Caciolo, Paolo Alfieri, Giorgia Piccini, et al.
Clinical Genetics|April 5, 2017
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiencyMaria Lisa Dentici, Sabina Barresi, Marcello Niceta, et al.
Brain Sciences|November 25, 2023
A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, et al.
International Journal of Pediatric Otorhinolaryngology|December 2, 2019
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothersSara Giannantonio, Emanuele Agolini, Alessandro Scorpecci, et al.
American Journal of Medical Genetics. Part A|January 12, 2005
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresiaAnna Sarkozy, Emanuela Conti, Rita D'Agostino, et al.
Pageof 24

Showing results (51-60 of 232) with videos related to

Sort By:
Pageof 24
American Journal of Medical Genetics. Part A|November 10, 2005
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defectsAnna Sarkozy, Giorgia Esposito, Emanuela Conti, et al.
Plant Molecular Biology Reporter|September 5, 2015
Prosystemin Overexpression in Tomato Enhances Resistance to Different Biotic Stresses by Activating Genes of Multiple Signaling PathwaysMariangela Coppola, Giandomenico Corrado, Valentina Coppola, et al.
The Journal of Pediatrics|May 21, 2003
Glutathione metabolism and antioxidant enzymes in children with Down syndromeAnna Pastore, Giulia Tozzi, Laura Maria Gaeta, et al.
American Journal of Medical Genetics. Part A|May 9, 2017
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphismMaria Lisa Dentici, Marcello Niceta, Francesca Pantaleoni, et al.
European Journal of Human Genetics : EJHG|March 19, 2009
16p subtelomeric duplication: a clinically recognizable syndromeMaria Cristina Digilio, Laura Bernardini, Anna Capalbo, et al.
Molecular Genetics & Genomic Medicine|March 15, 2018
Neurobehavioral features in individuals with Kabuki syndromeCristina Caciolo, Paolo Alfieri, Giorgia Piccini, et al.
Clinical Genetics|April 5, 2017
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiencyMaria Lisa Dentici, Sabina Barresi, Marcello Niceta, et al.
Brain Sciences|November 25, 2023
A New Case of Autosomal-Dominant <i>POLR3B</i>-Related Disorder: Widening Genotypic and Phenotypic <i>Spectrum</i>Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, et al.
International Journal of Pediatric Otorhinolaryngology|December 2, 2019
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothersSara Giannantonio, Emanuele Agolini, Alessandro Scorpecci, et al.
American Journal of Medical Genetics. Part A|January 12, 2005
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresiaAnna Sarkozy, Emanuela Conti, Rita D'Agostino, et al.
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