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Giulio Piluso

Showing results (51-60 of 90) with videos related to

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Journal of Neuromuscular Diseases|June 30, 2020
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)Marco Savarese, Talha Qureshi, Annalaura Torella, et al.
Analytical Biochemistry|July 31, 2010
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencingRaoul Jean Pierre Bonnal, Marco Severgnini, Alessandra Castaldi, et al.
Plos One|January 4, 2013
Enhancer chip: detecting human copy number variations in regulatory elementsMarco Savarese, Giulio Piluso, Daniela Orteschi, et al.
Journal of Neurochemistry|October 20, 2015
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1Teresa Esposito, Giulio Piluso, Dario Saracino, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Familial trisomy 6p in mother and daughterMarco Savarese, Anna Grandone, Lucia Perone, et al.
Plos One|September 21, 2011
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapyIda Luisa Rotundo, Stefania Faraso, Elvira De Leonibus, et al.
American Journal of Medical Genetics. Part A|February 26, 2004
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in CroatiaNina Canki-Klain, Astrid Milic, Biserka Kovac, et al.
Plos One|May 14, 2013
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FAnnalaura Torella, Marina Fanin, Margherita Mutarelli, et al.
International Journal of Molecular Sciences|August 26, 2022
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense <i>RNF213</i> Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature ReviewClaudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, et al.
American Journal of Medical Genetics. Part A|March 10, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos SyndromePasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, et al.
Pageof 9

Showing results (51-60 of 90) with videos related to

Sort By:
Pageof 9
Journal of Neuromuscular Diseases|June 30, 2020
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)Marco Savarese, Talha Qureshi, Annalaura Torella, et al.
Analytical Biochemistry|July 31, 2010
Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencingRaoul Jean Pierre Bonnal, Marco Severgnini, Alessandra Castaldi, et al.
Plos One|January 4, 2013
Enhancer chip: detecting human copy number variations in regulatory elementsMarco Savarese, Giulio Piluso, Daniela Orteschi, et al.
Journal of Neurochemistry|October 20, 2015
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1Teresa Esposito, Giulio Piluso, Dario Saracino, et al.
American Journal of Medical Genetics. Part A|May 21, 2013
Familial trisomy 6p in mother and daughterMarco Savarese, Anna Grandone, Lucia Perone, et al.
Plos One|September 21, 2011
Worsening of cardiomyopathy using deflazacort in an animal model rescued by gene therapyIda Luisa Rotundo, Stefania Faraso, Elvira De Leonibus, et al.
American Journal of Medical Genetics. Part A|February 26, 2004
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in CroatiaNina Canki-Klain, Astrid Milic, Biserka Kovac, et al.
Plos One|May 14, 2013
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FAnnalaura Torella, Marina Fanin, Margherita Mutarelli, et al.
International Journal of Molecular Sciences|August 26, 2022
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense <i>RNF213</i> Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature ReviewClaudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, et al.
American Journal of Medical Genetics. Part A|March 10, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos SyndromePasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman, et al.
Pageof 9