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Daniela Concolino

Showing results (11-20 of 80) with videos related to

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Journal of Ultrasound|January 19, 2024
Point of care lung ultrasound in preschool children with cystic fibrosis: a case-controlled, prospective, pilot studyAntonio Alessandro Crispino, Anna Maria Musolino, Danilo Buonsenso, et al.
Gastroenterology Research and Practice|February 17, 2016
Gastrointestinal Symptoms of Patients with Fabry DiseaseLicia Pensabene, Simona Sestito, Angela Nicoletti, et al.
High-Throughput|September 19, 2018
The Cytoscan HD Array in the Diagnosis of Neurodevelopmental DisordersFrancesca Scionti, Maria Teresa Di Martino, Licia Pensabene, et al.
European Journal of Pediatrics|June 12, 2009
Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutationDaniela Concolino, Gianluca Muzzi, Simona Sestito, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactylyGiuseppe Bonapace, Ferdinando Ceravolo, Alessandro Piccirillo, et al.
Molecular Genetics and Metabolism|September 23, 2006
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)Clare E Beesley, Daniela Concolino, Mirella Filocamo, et al.
Pediatrics and Neonatology|August 11, 2020
Evolution of congenital hypothyroidism in a cohort of preterm born childrenMaria Scavone, Laura Giancotti, Elisa Anastasio, et al.
Nutrients|February 10, 2024
Nutraceuticals and Pain Disorders of the Gut-Brain Interaction in Infants and Children: A Narrative Review and Practical InsightsSilvia Salvatore, Mariagrazia Carlino, Simona Sestito, et al.
Journal of Medical Case Reports|January 21, 2017
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case reportFerdinando Ceravolo, Michele Grisolia, Simona Sestito, et al.
Molecular Genetics and Metabolism|September 29, 2023
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry DiseaseConcetta Riillo, Giuseppe Bonapace, Maria Teresa Moricca, et al.
Pageof 8

Showing results (11-20 of 80) with videos related to

Sort By:
Pageof 8
Journal of Ultrasound|January 19, 2024
Point of care lung ultrasound in preschool children with cystic fibrosis: a case-controlled, prospective, pilot studyAntonio Alessandro Crispino, Anna Maria Musolino, Danilo Buonsenso, et al.
Gastroenterology Research and Practice|February 17, 2016
Gastrointestinal Symptoms of Patients with Fabry DiseaseLicia Pensabene, Simona Sestito, Angela Nicoletti, et al.
High-Throughput|September 19, 2018
The Cytoscan HD Array in the Diagnosis of Neurodevelopmental DisordersFrancesca Scionti, Maria Teresa Di Martino, Licia Pensabene, et al.
European Journal of Pediatrics|June 12, 2009
Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutationDaniela Concolino, Gianluca Muzzi, Simona Sestito, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactylyGiuseppe Bonapace, Ferdinando Ceravolo, Alessandro Piccirillo, et al.
Molecular Genetics and Metabolism|September 23, 2006
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)Clare E Beesley, Daniela Concolino, Mirella Filocamo, et al.
Pediatrics and Neonatology|August 11, 2020
Evolution of congenital hypothyroidism in a cohort of preterm born childrenMaria Scavone, Laura Giancotti, Elisa Anastasio, et al.
Nutrients|February 10, 2024
Nutraceuticals and Pain Disorders of the Gut-Brain Interaction in Infants and Children: A Narrative Review and Practical InsightsSilvia Salvatore, Mariagrazia Carlino, Simona Sestito, et al.
Journal of Medical Case Reports|January 21, 2017
Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case reportFerdinando Ceravolo, Michele Grisolia, Simona Sestito, et al.
Molecular Genetics and Metabolism|September 29, 2023
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry DiseaseConcetta Riillo, Giuseppe Bonapace, Maria Teresa Moricca, et al.
Pageof 8