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Francesco Papadia

Showing results (21-30 of 38) with videos related to

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Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.
Clinical Biochemistry|December 4, 2013
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigreesRoberta Trunzo, Rosa Santacroce, Giovanna D'Andrea, et al.
Journal of Medical Case Reports|April 23, 2018
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case reportAlbina Tummolo, Livio Melpignano, Antonella Carella, et al.
Obesity (Silver Spring, Md.)|June 15, 2007
Biliopancreatic diversion reduces QT interval and dispersion in severely obese patientsGian Paolo Bezante, Alice Scopinaro, Francesco Papadia, et al.
The Journal of Clinical Endocrinology and Metabolism|May 14, 2013
Biliopancreatic diversion in nonobese patients with type 2 diabetes: impact and mechanismsBrenno Astiarraga, Amalia Gastaldelli, Elza Muscelli, et al.
The American Journal of Pathology|January 22, 2018
Mechanisms of Enhanced Osteoclastogenesis in AlkaptonuriaGiacomina Brunetti, Albina Tummolo, Gabriele D'Amato, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 27, 2015
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsivenessRoberta Trunzo, Rosa Santacroce, Giovanna D'Andrea, et al.
Atherosclerosis|May 19, 2017
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemiaPaola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, et al.
American Journal of Medical Genetics. Part A|April 14, 2017
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literatureRita Fischetto, Orazio Palumbo, Federica Ortolani, et al.
Obesity Surgery|March 1, 2002
Radiology of patients with vertical banded gastroplastyGiovanni Camerini, Fabio Pretolesi, Giuseppe Maria Marinari, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.
Clinical Biochemistry|December 4, 2013
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigreesRoberta Trunzo, Rosa Santacroce, Giovanna D'Andrea, et al.
Journal of Medical Case Reports|April 23, 2018
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case reportAlbina Tummolo, Livio Melpignano, Antonella Carella, et al.
Obesity (Silver Spring, Md.)|June 15, 2007
Biliopancreatic diversion reduces QT interval and dispersion in severely obese patientsGian Paolo Bezante, Alice Scopinaro, Francesco Papadia, et al.
The Journal of Clinical Endocrinology and Metabolism|May 14, 2013
Biliopancreatic diversion in nonobese patients with type 2 diabetes: impact and mechanismsBrenno Astiarraga, Amalia Gastaldelli, Elza Muscelli, et al.
The American Journal of Pathology|January 22, 2018
Mechanisms of Enhanced Osteoclastogenesis in AlkaptonuriaGiacomina Brunetti, Albina Tummolo, Gabriele D'Amato, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 27, 2015
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsivenessRoberta Trunzo, Rosa Santacroce, Giovanna D'Andrea, et al.
Atherosclerosis|May 19, 2017
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemiaPaola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, et al.
American Journal of Medical Genetics. Part A|April 14, 2017
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literatureRita Fischetto, Orazio Palumbo, Federica Ortolani, et al.
Obesity Surgery|March 1, 2002
Radiology of patients with vertical banded gastroplastyGiovanni Camerini, Fabio Pretolesi, Giuseppe Maria Marinari, et al.
Pageof 4