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Rossella Parini

Showing results (41-50 of 121) with videos related to

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Journal of Child Neurology|January 10, 2008
High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemiaMassimo Mastrangelo, Laura Canafoglia, Silvana Franceschetti, et al.
AJNR. American Journal of Neuroradiology|March 15, 2003
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging featuresCecilia Parazzini, Saverio Arena, Lucrezia Marchetti, et al.
Human Mutation|September 18, 2010
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletionGabriella Esposito, Maria Rosaria Imperato, Luigi Ieno, et al.
Metabolic Brain Disease|July 4, 2019
Novel mutations in two unrelated Italian patients with SSADH deficiencyMarta Balzarini, Valentina Rovelli, Sabrina Paci, et al.
Molecular Cytogenetics|September 12, 2018
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two casesDonatella Conconi, Nicoletta Villa, Serena Redaelli, et al.
European Journal of Human Genetics : EJHG|September 12, 2013
Functional analysis of 11 novel GBA allelesErika Malini, Serena Grossi, Marta Deganuto, et al.
Medicina (Kaunas, Lithuania)|January 21, 2022
Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth AbnormalitiesFederico Baronio, Stefano Zucchini, Francesco Zulian, et al.
European Journal of Pediatrics|May 21, 2005
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literatureDaniela Melis, Rossella Fulceri, Giancarlo Parenti, et al.
Paediatric Anaesthesia|April 25, 2018
Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patientsVittorio Scaravilli, Alberto Zanella, Valentina Ciceri, et al.
Human Mutation|February 16, 2005
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosisMichele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, et al.
Pageof 13

Showing results (41-50 of 121) with videos related to

Sort By:
Pageof 13
Journal of Child Neurology|January 10, 2008
High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemiaMassimo Mastrangelo, Laura Canafoglia, Silvana Franceschetti, et al.
AJNR. American Journal of Neuroradiology|March 15, 2003
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging featuresCecilia Parazzini, Saverio Arena, Lucrezia Marchetti, et al.
Human Mutation|September 18, 2010
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletionGabriella Esposito, Maria Rosaria Imperato, Luigi Ieno, et al.
Metabolic Brain Disease|July 4, 2019
Novel mutations in two unrelated Italian patients with SSADH deficiencyMarta Balzarini, Valentina Rovelli, Sabrina Paci, et al.
Molecular Cytogenetics|September 12, 2018
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two casesDonatella Conconi, Nicoletta Villa, Serena Redaelli, et al.
European Journal of Human Genetics : EJHG|September 12, 2013
Functional analysis of 11 novel GBA allelesErika Malini, Serena Grossi, Marta Deganuto, et al.
Medicina (Kaunas, Lithuania)|January 21, 2022
Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth AbnormalitiesFederico Baronio, Stefano Zucchini, Francesco Zulian, et al.
European Journal of Pediatrics|May 21, 2005
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literatureDaniela Melis, Rossella Fulceri, Giancarlo Parenti, et al.
Paediatric Anaesthesia|April 25, 2018
Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patientsVittorio Scaravilli, Alberto Zanella, Valentina Ciceri, et al.
Human Mutation|February 16, 2005
Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosisMichele Sbaragli, Lucia Bibi, Maria Gabriela Pittis, et al.
Pageof 13