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Daniela Concolino

Showing results (51-60 of 80) with videos related to

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Journal of Hepatology|November 18, 2008
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patientsRossella Parini, Francesca Furlan, Luigi Notarangelo, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 yearsRosella Tomanin, Alessandra Zanetti, Francesca D'Avanzo, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experienceIris Scala, Daniela Concolino, Roberto Della Casa, et al.
Minerva Anestesiologica|December 15, 2017
Facing up to limits: a lesson from the Charlie Gard caseAlberto Giannini, Paola Cogo, Bruno Bembi, et al.
Oncotarget|January 4, 2018
Genetic variants associated with Fabry disease progression despite enzyme replacement therapyFrancesca Scionti, Maria Teresa Di Martino, Simona Sestito, et al.
American Journal of Human Genetics|December 17, 2009
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al.
Stem Cell Research|September 7, 2019
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutationsValentina Alari, Silvia Russo, Davide Rovina, et al.
Italian Journal of Pediatrics|March 6, 2022
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panelVincenza Gragnaniello, Federica Deodato, Serena Gasperini, et al.
Stem Cell Research|June 9, 2018
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitabilityValentina Alari, Silvia Russo, Benedetta Terragni, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 16, 2018
False positive screen test for mucopolysaccharidoses in healthy female newbornsChiara Monachesi, Lucia Zampini, Lucia Padella, et al.
Pageof 8

Showing results (51-60 of 80) with videos related to

Sort By:
Pageof 8
Journal of Hepatology|November 18, 2008
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patientsRossella Parini, Francesca Furlan, Luigi Notarangelo, et al.
Orphanet Journal of Rare Diseases|September 19, 2014
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 yearsRosella Tomanin, Alessandra Zanetti, Francesca D'Avanzo, et al.
Orphanet Journal of Rare Diseases|March 12, 2015
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experienceIris Scala, Daniela Concolino, Roberto Della Casa, et al.
Minerva Anestesiologica|December 15, 2017
Facing up to limits: a lesson from the Charlie Gard caseAlberto Giannini, Paola Cogo, Bruno Bembi, et al.
Oncotarget|January 4, 2018
Genetic variants associated with Fabry disease progression despite enzyme replacement therapyFrancesca Scionti, Maria Teresa Di Martino, Simona Sestito, et al.
American Journal of Human Genetics|December 17, 2009
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia geneLudovica Volpi, Gaia Roversi, Elisa Adele Colombo, et al.
Stem Cell Research|September 7, 2019
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutationsValentina Alari, Silvia Russo, Davide Rovina, et al.
Italian Journal of Pediatrics|March 6, 2022
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panelVincenza Gragnaniello, Federica Deodato, Serena Gasperini, et al.
Stem Cell Research|June 9, 2018
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitabilityValentina Alari, Silvia Russo, Benedetta Terragni, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 16, 2018
False positive screen test for mucopolysaccharidoses in healthy female newbornsChiara Monachesi, Lucia Zampini, Lucia Padella, et al.
Pageof 8