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Patrizia De Bonis

Showing results (1-10 of 17) with videos related to

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Human Genetics|April 4, 2008
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuriaLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis
Human Genetics|April 4, 2008
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuriaLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis
Human Genetics|April 15, 2011
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuriaLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis
Human Genetics|April 15, 2011
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuriaLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis
Genetic Testing|December 29, 2005
Indirect CFTR mutation identification by PCR/OLA anomalous electropherogramsPietro Stanziale, Maria Savino, Patrizia De Bonis, et al.
Journal of Human Genetics|May 27, 2016
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysisSalvatore Melchionda, Teresa Palladino, Stefano Castellana, 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 Vision|October 7, 2011
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconusPatrizia De Bonis, Antonio Laborante, Costantina Pizzicoli, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|August 20, 2015
Familial cleidocranial dysplasia misdiagnosed as rickets over three generationsRoberto Franceschi, Evelina Maines, Michela Fedrizzi, et al.
BMC Medical Genetics|July 29, 2018
Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case reportAngelica Bianco, Luigi Bisceglia, Maria Fara De Caro, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Human Genetics|April 4, 2008
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuriaLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis
Human Genetics|April 4, 2008
Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuriaLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis
Human Genetics|April 15, 2011
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuriaLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis
Human Genetics|April 15, 2011
Novel human pathological mutations. Gene symbol: SLC3A1. Disease: cystinuriaLuigi Bisceglia, Lucia Fischetti, Patrizia De Bonis
Genetic Testing|December 29, 2005
Indirect CFTR mutation identification by PCR/OLA anomalous electropherogramsPietro Stanziale, Maria Savino, Patrizia De Bonis, et al.
Journal of Human Genetics|May 27, 2016
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysisSalvatore Melchionda, Teresa Palladino, Stefano Castellana, 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 Vision|October 7, 2011
Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconusPatrizia De Bonis, Antonio Laborante, Costantina Pizzicoli, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|August 20, 2015
Familial cleidocranial dysplasia misdiagnosed as rickets over three generationsRoberto Franceschi, Evelina Maines, Michela Fedrizzi, et al.
BMC Medical Genetics|July 29, 2018
Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case reportAngelica Bianco, Luigi Bisceglia, Maria Fara De Caro, et al.
Pageof 2