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Filomena Tiziana Papa

Showing results (1-10 of 21) with videos related to

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International Journal of Genomics|July 4, 2024
MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation SequencingFederico Gabrielli, Filomena Tiziana Papa, Fabio Di Pietro, et al.
European Journal of Medical Genetics|February 9, 2019
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotypeAnnarita Giliberti, Aurora Currò, Filomena Tiziana Papa, et al.
European Journal of Medical Genetics|March 24, 2009
14q12 Microdeletion syndrome and congenital variant of Rett syndromeMaria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, et al.
The British Journal of Ophthalmology|September 4, 2010
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAGPaolo Frezzotti, Chiara Pescucci, Filomena Tiziana Papa, et al.
American Journal of Ophthalmology|January 11, 2024
Topical Antiseptics in Minimizing Ocular Surface Bacterial Load Before Ophthalmic Surgery: A Randomized Controlled TrialVito Romano, Mariantonia Ferrara, Francesca Gatti, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patientsEleni Katzaki, Gilles Morin, Marzia Pollazzon, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardationRossella Caselli, Maria Antonietta Mencarelli, Filomena Tiziana Papa, et al.
Clinical Dysmorphology|December 1, 2007
Expanding the phenotype of 22q11 deletion syndrome: the MURCS associationVera Uliana, Nicola Giordano, Rossella Caselli, et al.
Genes|September 28, 2021
13q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor DelayFlavia Privitera, Arianna Calonaci, Gabriella Doddato, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like featuresFilomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

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Pageof 3
International Journal of Genomics|July 4, 2024
MaterniCode: New Bioinformatic Pipeline to Detect Fetal Aneuploidies and Rearrangements Using Next-Generation SequencingFederico Gabrielli, Filomena Tiziana Papa, Fabio Di Pietro, et al.
European Journal of Medical Genetics|February 9, 2019
MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotypeAnnarita Giliberti, Aurora Currò, Filomena Tiziana Papa, et al.
European Journal of Medical Genetics|March 24, 2009
14q12 Microdeletion syndrome and congenital variant of Rett syndromeMaria Antonietta Mencarelli, Tjitske Kleefstra, Eleni Katzaki, et al.
The British Journal of Ophthalmology|September 4, 2010
Association between primary open-angle glaucoma (POAG) and WDR36 sequence variance in Italian families affected by POAGPaolo Frezzotti, Chiara Pescucci, Filomena Tiziana Papa, et al.
American Journal of Ophthalmology|January 11, 2024
Topical Antiseptics in Minimizing Ocular Surface Bacterial Load Before Ophthalmic Surgery: A Randomized Controlled TrialVito Romano, Mariantonia Ferrara, Francesca Gatti, et al.
American Journal of Medical Genetics. Part A|June 26, 2010
Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patientsEleni Katzaki, Gilles Morin, Marzia Pollazzon, et al.
American Journal of Medical Genetics. Part A|March 19, 2008
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardationRossella Caselli, Maria Antonietta Mencarelli, Filomena Tiziana Papa, et al.
Clinical Dysmorphology|December 1, 2007
Expanding the phenotype of 22q11 deletion syndrome: the MURCS associationVera Uliana, Nicola Giordano, Rossella Caselli, et al.
Genes|September 28, 2021
13q Deletion Syndrome Involving <i>RB1</i>: Characterization of a New Minimal Critical Region for Psychomotor DelayFlavia Privitera, Arianna Calonaci, Gabriella Doddato, et al.
American Journal of Medical Genetics. Part A|July 16, 2008
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like featuresFilomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, et al.
Pageof 3