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Genetic Testing
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February 26, 2008
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center
Marta Camilot, Francesca Teofoli, Monica Vincenzi, et al.
European Journal of Endocrinology
|
August 12, 2016
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management
Paolo Cavarzere, Marta Camilot, Florina Ion Popa, et al.
Hormone Research in Paediatrics
|
March 29, 2022
Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test
Paolo Cavarzere, Marta Camilot, Laura Palma, et al.
Fertility and Sterility
|
June 12, 2010
Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone
Paolo Cavarzere, Monica Vincenzi, Rossella Gaudino, et al.
Italian Journal of Pediatrics
|
January 18, 2018
Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, et al.
Calcified Tissue International
|
March 19, 2015
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes
Roberto Franceschi, Monica Vincenzi, Marta Camilot, et al.
Minerva Pediatrica
|
November 21, 2014
Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns
Monica Vincenzi, Florina Ion Popa, Massimiliano Corradi, et al.
Public Health Nutrition
|
July 25, 2017
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice
Evelina Maines, Giorgia Gugelmo, Elisa Tadiotto, et al.
JIMD Reports
|
February 23, 2013
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations
Florina Ion Popa, Silvia Perlini, Francesca Teofoli, et al.
Journal of Neurology
|
January 31, 2020
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Francesco Macchione, Leonardo Salviati, Andrea Bordugo, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
Genetic Testing
|
February 26, 2008
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center
Marta Camilot, Francesca Teofoli, Monica Vincenzi, et al.
European Journal of Endocrinology
|
August 12, 2016
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management
Paolo Cavarzere, Marta Camilot, Florina Ion Popa, et al.
Hormone Research in Paediatrics
|
March 29, 2022
Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test
Paolo Cavarzere, Marta Camilot, Laura Palma, et al.
Fertility and Sterility
|
June 12, 2010
Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone
Paolo Cavarzere, Monica Vincenzi, Rossella Gaudino, et al.
Italian Journal of Pediatrics
|
January 18, 2018
Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, et al.
Calcified Tissue International
|
March 19, 2015
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes
Roberto Franceschi, Monica Vincenzi, Marta Camilot, et al.
Minerva Pediatrica
|
November 21, 2014
Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns
Monica Vincenzi, Florina Ion Popa, Massimiliano Corradi, et al.
Public Health Nutrition
|
July 25, 2017
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice
Evelina Maines, Giorgia Gugelmo, Elisa Tadiotto, et al.
JIMD Reports
|
February 23, 2013
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations
Florina Ion Popa, Silvia Perlini, Francesca Teofoli, et al.
Journal of Neurology
|
January 31, 2020
Multiple acyl-COA dehydrogenase deficiency in elderly carriers
Francesco Macchione, Leonardo Salviati, Andrea Bordugo, et al.
Page
of 2