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Pediatric Nephrology (Berlin, Germany)
|
April 30, 2021
Fabry disease and kidney involvement: starting from childhood to understand the future
Roberto Chimenz, Valeria Chirico, Caterina Cuppari, et al.
JIMD Reports
|
July 3, 2013
Chiari 1 malformation and holocord syringomyelia in hunter syndrome
Renzo Manara, Daniela Concolino, Angelica Rampazzo, et al.
European Journal of Clinical Investigation
|
February 9, 2011
Modelling the resource implications of managing adults with Fabry disease in Italy
Julian F Guest, Daniela Concolino, Raffaele Di Vito, et al.
Italian Journal of Pediatrics
|
September 10, 2013
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience
Ferdinando Ceravolo, Italia Mascaro, Simona Sestito, et al.
Pediatric Nephrology (Berlin, Germany)
|
November 8, 2007
Which cystography in the diagnosis and grading of vesicoureteral reflux?
Antonio Piscitelli, Rossella Galiano, Francesco Serrao, et al.
Journal of Pediatric Genetics
|
February 8, 2021
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome
Valentina Bruni, Cristina Scozzafava, Maria Gnazzo, et al.
Journal of Medical Genetics
|
October 4, 2007
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome
Daniela Concolino, Elena Rossi, Pietro Strisciuglio, et al.
Cytogenetic and Genome Research
|
May 30, 2019
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature
Valentina Bruni, Katia Roppa, Francesca Scionti, et al.
Aging Clinical and Experimental Research
|
June 8, 2018
Werner syndrome: a rare mutation
Alberto Castagna, Pietro Gareri, Francesca Falvo, et al.
Molecular Genetics and Metabolism
|
August 17, 2014
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
Annalisa Sechi, Laura Deroma, Andrea Dardis, et al.
Page
of 8
Search research articles
Search
Showing results (21-30 of 80) with videos related to
Sort By:
Page
of 8
Pediatric Nephrology (Berlin, Germany)
|
April 30, 2021
Fabry disease and kidney involvement: starting from childhood to understand the future
Roberto Chimenz, Valeria Chirico, Caterina Cuppari, et al.
JIMD Reports
|
July 3, 2013
Chiari 1 malformation and holocord syringomyelia in hunter syndrome
Renzo Manara, Daniela Concolino, Angelica Rampazzo, et al.
European Journal of Clinical Investigation
|
February 9, 2011
Modelling the resource implications of managing adults with Fabry disease in Italy
Julian F Guest, Daniela Concolino, Raffaele Di Vito, et al.
Italian Journal of Pediatrics
|
September 10, 2013
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience
Ferdinando Ceravolo, Italia Mascaro, Simona Sestito, et al.
Pediatric Nephrology (Berlin, Germany)
|
November 8, 2007
Which cystography in the diagnosis and grading of vesicoureteral reflux?
Antonio Piscitelli, Rossella Galiano, Francesco Serrao, et al.
Journal of Pediatric Genetics
|
February 8, 2021
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome
Valentina Bruni, Cristina Scozzafava, Maria Gnazzo, et al.
Journal of Medical Genetics
|
October 4, 2007
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome
Daniela Concolino, Elena Rossi, Pietro Strisciuglio, et al.
Cytogenetic and Genome Research
|
May 30, 2019
A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature
Valentina Bruni, Katia Roppa, Francesca Scionti, et al.
Aging Clinical and Experimental Research
|
June 8, 2018
Werner syndrome: a rare mutation
Alberto Castagna, Pietro Gareri, Francesca Falvo, et al.
Molecular Genetics and Metabolism
|
August 17, 2014
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
Annalisa Sechi, Laura Deroma, Andrea Dardis, et al.
Page
of 8