Silvio Ferraris - Concepedia

Author

Silvio Ferraris

University of Turin

Also Known As

Ferraris Silvio, SILVIO FERRARIS, Silvio Ferraris

Publications

579

Citations

H-Index

Concepts

All Affiliations

University of Turin Columbia University Royal Children's Hospital University of Pisa IRCCS Istituto Auxologico Italiano

About

Silvio Ferraris is an author at University of Turin specializing in medicine, pathology, and clinical genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	112
2	Biochemistry	2	2	44
3	Metabolism	2	2	44
4	Clinical Nutrition	1	1	26
5	Molecular Genetics	1	1	43

Silvio Ferraris

Publications

447

Citations

H-Index

Page 1

	Year	Citations
<i>POLG</i> mutations and Alpers syndrome Guido Davidzon, Michelangelo Mancuso, Silvio Ferraris, Annals of Neurology	2005	130
Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1 Silvio Ferraris, Susanna Clark, Emanuela Garelli, Archives of Neurology	2008	56
New DGK Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Michelangelo Mancuso, Silvio Ferraris, Jacklyn Pancrudo, Archives of Neurology	2005	47
Malformations following methimazole exposure in utero: An open issue Silvio Ferraris, Mariella Valenzise, Margherita Lerone, Birth Defects Research Part A Clinical and Molecular Teratology	2003	43
HDR syndrome: A novel “de novo” mutation in <i>GATA3</i> gene Silvio Ferraris, Angelo Giovanni Del monaco, Emanuela Garelli, American Journal of Medical Genetics Part A Renal DysplasiaHuman Gata3 HaploinsufficiencyGene DosageMendelian DisorderHdr Syndrome	2009	43
Hair anomalies as a sign of mitochondrial disease Margherita Silengo, Mariella Valenzise, Marco Spada, European Journal of Pediatrics Mitochondrial MyopathyMitochondrial BiogenesisMitochondrial FunctionHistopathologyPathology	2003	26
Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia A Ponzone, Ornella Guardamagna, Silvio Ferraris, Pediatric Research Tetrahydrobiopterin Loading TestBiochemistryBioanalysisClinical NutritionParathyroid Hormone	1991	26
Anthropometric characteristics of newborns with Prader–Willi syndrome Alessandro Salvatoni, Alex Moretti, Graziano Grugni, American Journal of Medical Genetics Part A	2019	21
Impact of Neonatal Protein Metabolism and Nutrition on Screening for Phenylketonuria Alberto Ponzone, Marco Spada, Luca Roasio, Journal of Pediatric Gastroenterology and Nutrition	2008	20
Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency Alberto Ponzone, Francesco Porta, Alessandro Mussa, Metabolism BiosynthesisBiochemistryBiochemical GeneticsMetabolismPhenylalanine Hydroxylase Deficiency	2009	18

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