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Concolino

Showing results (151-160 of 347) with videos related to

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Journal of Pediatric Genetics|February 8, 2021
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki SyndromeValentina Bruni, Cristina Scozzafava, Maria Gnazzo, et al.
Frontiers in Bioscience (Landmark Edition)|October 6, 2019
Iodothyronine deiodinases and reduced sensitivity to thyroid hormonesRosa Maria Paragliola, Andrea Corsello, Paola Concolino, et al.
Neurology|October 27, 2022
Clinical Reasoning: A Young Man With Subacute Onset of Spastic ParaparesisSalvatore Rossi, Paola Concolino, Daniele Di Natale, et al.
Genes|November 24, 2022
A Novel <i>GCK</i> Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome SequencingPaola Concolino, Linda Tartaglione, Elisa De Paolis, et al.
Annals of Clinical Biochemistry|March 29, 2011
Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutationAngelo Minucci, Daniele De Luca, Eleonora Torti, et al.
Case Reports in Genetics|April 30, 2015
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic FibrosisRossana Molinario, Sara Palumbo, Paola Concolino, et al.
Current Gene Therapy|April 6, 2018
Genetics and Gene Therapy in Hunter DiseaseS Sestito, F Falvo, C Scozzafava, et al.
Molecular Biology Reports|August 19, 2020
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1Andrea Corsello, Carmine Bruno, Roberta Rizza, 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 syndromeDaniela Concolino, Elena Rossi, Pietro Strisciuglio, et al.
Journal of Medical Genetics|March 19, 2002
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsionsD Concolino, M A Iembo, E Rossi, et al.
Pageof 35

Showing results (151-160 of 347) with videos related to

Sort By:
Pageof 35
Journal of Pediatric Genetics|February 8, 2021
Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki SyndromeValentina Bruni, Cristina Scozzafava, Maria Gnazzo, et al.
Frontiers in Bioscience (Landmark Edition)|October 6, 2019
Iodothyronine deiodinases and reduced sensitivity to thyroid hormonesRosa Maria Paragliola, Andrea Corsello, Paola Concolino, et al.
Neurology|October 27, 2022
Clinical Reasoning: A Young Man With Subacute Onset of Spastic ParaparesisSalvatore Rossi, Paola Concolino, Daniele Di Natale, et al.
Genes|November 24, 2022
A Novel <i>GCK</i> Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome SequencingPaola Concolino, Linda Tartaglione, Elisa De Paolis, et al.
Annals of Clinical Biochemistry|March 29, 2011
Acute haemolytic crisis due to concomitant presence of infection and possible altered acetaminophen catabolism in a Philipino child carrying the G6PD-Vanua Lava mutationAngelo Minucci, Daniele De Luca, Eleonora Torti, et al.
Case Reports in Genetics|April 30, 2015
Incidental Finding of a Homozygous p.M348K Asymptomatic Italian Patient Confirms the Many Faces of Cystic FibrosisRossana Molinario, Sara Palumbo, Paola Concolino, et al.
Current Gene Therapy|April 6, 2018
Genetics and Gene Therapy in Hunter DiseaseS Sestito, F Falvo, C Scozzafava, et al.
Molecular Biology Reports|August 19, 2020
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1Andrea Corsello, Carmine Bruno, Roberta Rizza, 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 syndromeDaniela Concolino, Elena Rossi, Pietro Strisciuglio, et al.
Journal of Medical Genetics|March 19, 2002
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsionsD Concolino, M A Iembo, E Rossi, et al.
Pageof 35