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Massimo Carella

Showing results (21-30 of 207) with videos related to

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American Journal of Medical Genetics. Part A|August 13, 2025
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian FamilyMario Benvenuto, Dora Varvara, Massimo Carella, et al.
Journal of Biomedical Informatics|October 3, 2009
On the reproducibility of results of pathway analysis in genome-wide expression studies of colorectal cancersRosalia Maglietta, Angela Distaso, Ada Piepoli, et al.
Molecular Genetics and Metabolism|September 29, 2009
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patientsLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis, et al.
Molecular Cytogenetics|March 17, 2015
Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplicationOrazio Palumbo, Pietro Palumbo, Emanuela Ferri, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and reviewOrazio Palumbo, Pietro Palumbo, Teresa Palladino, et al.
Gene|January 5, 2013
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordinationOrazio Palumbo, Leonardo D'Agruma, Adelaide Franca Minenna, et al.
Plos Computational Biology|June 23, 2017
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEEStefano Castellana, Caterina Fusilli, Gianluigi Mazzoccoli, et al.
International Journal of Biological Sciences|October 28, 2008
Biological and functional analysis of statistically significant pathways deregulated in colon cancer by using gene expression profilesAngela Distaso, Luca Abatangelo, Rosalia Maglietta, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletionOrazio Palumbo, Marco Fichera, Pietro Palumbo, et al.
Molecular Cytogenetics|November 26, 2015
Neurological features of 14q24-q32 interstitial deletion: report of a new caseFrancesco Nicita, Marilena Di Giacomo, Orazio Palumbo, et al.
Pageof 21

Showing results (21-30 of 207) with videos related to

Sort By:
Pageof 21
American Journal of Medical Genetics. Part A|August 13, 2025
Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian FamilyMario Benvenuto, Dora Varvara, Massimo Carella, et al.
Journal of Biomedical Informatics|October 3, 2009
On the reproducibility of results of pathway analysis in genome-wide expression studies of colorectal cancersRosalia Maglietta, Angela Distaso, Ada Piepoli, et al.
Molecular Genetics and Metabolism|September 29, 2009
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patientsLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis, et al.
Molecular Cytogenetics|March 17, 2015
Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplicationOrazio Palumbo, Pietro Palumbo, Emanuela Ferri, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and reviewOrazio Palumbo, Pietro Palumbo, Teresa Palladino, et al.
Gene|January 5, 2013
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordinationOrazio Palumbo, Leonardo D'Agruma, Adelaide Franca Minenna, et al.
Plos Computational Biology|June 23, 2017
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEEStefano Castellana, Caterina Fusilli, Gianluigi Mazzoccoli, et al.
International Journal of Biological Sciences|October 28, 2008
Biological and functional analysis of statistically significant pathways deregulated in colon cancer by using gene expression profilesAngela Distaso, Luca Abatangelo, Rosalia Maglietta, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletionOrazio Palumbo, Marco Fichera, Pietro Palumbo, et al.
Molecular Cytogenetics|November 26, 2015
Neurological features of 14q24-q32 interstitial deletion: report of a new caseFrancesco Nicita, Marilena Di Giacomo, Orazio Palumbo, et al.
Pageof 21