E-LIB Suche - Ergebnisse für: Ferraris, Silvio

1

Obituary for Prof. Alberto Ponzone:

Porta, Francesco ; Mussa, Alessandro ; Ferraris, Silvio..
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 1013-1013 , 2022

Link: https://doi.org/10.1002/..

2

Anthropometric characteristics of newborns with Prader–Will..:

Salvatoni, Alessandro ; Moretti, Alex ; Grugni, Graziano...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2067-2074 , 2019

Link: https://doi.org/10.1002/..

3

Uniparental disomy and pretreatment IGF-1 may predict eleva..:

Palmieri, Viviana Valeria ; Lonero, Antonella ; Bocchini, Sarah...
Growth Hormone & IGF Research. 48-49 (2019) - p. 9-15 , 2019

Link: https://doi.org/10.1016/..

4

Unresponsiveness to tetrahydrobiopterin of phenylalanine hy..:

Ponzone, Alberto ; Porta, Francesco ; Mussa, Alessandro...
Metabolism. 59 (2010) 5 - p. 645-652 , 2010

Link: https://doi.org/10.1016/..

5

HDR syndrome: A novel "de novo" mutation in GATA3 gene:

Ferraris, Silvio ; Del monaco, Angelo Giovanni ; Garelli, Emanuela...
American Journal of Medical Genetics Part A. 149A (2009) 4 - p. 770-775 , 2009

Link: https://doi.org/10.1002/..

6

Impact of Neonatal Protein Metabolism and Nutrition on Scre..:

Ponzone, Alberto ; Spada, Marco ; Roasio, Luca...
Journal of Pediatric Gastroenterology and Nutrition. 46 (2008) 5 - p. 561-569 , 2008

Link: https://doi.org/10.1097/..

7

POLG mutations and Alpers syndrome:

Davidzon, Guido ; Mancuso, Michelangelo ; Ferraris, Silvio...
Annals of Neurology. 57 (2005) 6 - p. 921-923 , 2005

Link: https://doi.org/10.1002/..

8

Congenital or late-onset myopathy in patients with the T147..:

Mancuso, Michelangelo ; Ferraris, Silvio ; Nishigaki, Yutaka...
Journal of the Neurological Sciences. 228 (2005) 1 - p. 93-97 , 2005

Link: https://doi.org/10.1016/..

9

Hair anomalies as a sign of mitochondrial disease:

Silengo, Margherita ; Valenzise, Mariella ; Spada, Marco...
European Journal of Pediatrics. 162 (2003) 7-8 - p. 459-461 , 2003

Link: https://doi.org/10.1007/..

10

Dihydropteridine reductase deficiency in man: From biology ..:

Ponzone, Alberto ; Spada, Marco ; Ferraris, Silvio..
Medicinal Research Reviews. 24 (2003) 2 - p. 127-150 , 2003

Link: https://doi.org/10.1002/..

11

Mental retardation, peculiar facial dysmorphism and HbH inc..:

Valenzise, Mariella ; Ferrero, Giovanni ; Tosi, Maria..
European Journal of Pediatrics. 161 (2002) 11 - p. 627-628 , 2002

Link: https://doi.org/10.1007/..

12

Goldenhar anomaly in one of triplets derived from in vitro ..:

Ferraris, Silvio ; Silengo, Margherita ; Ponzone, Alberto.
American Journal of Medical Genetics. 84 (1999) 2 - p. 167-168 , 1999

Link: https://doi.org/10.1002/..

13

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia:

Ponzone, Alberto ; Guardamagna, Ornella ; Ferraris, Silvio...
Pediatric Research. 30 (1991) 5 - p. 435-438 , 1991

Link: https://doi.org/10.1203/..

14

Transient Abnormal Myelopoiesis in Noonan Syndrome:

Silvio, Ferraris ; Carlo, Lanza ; Elena, Barisone...
Journal of Pediatric Hematology/Oncology. 24 (2002) 9 - p. 763-764 , 2002

Link: https://doi.org/10.1097/..

15

Italian pediatric nutrition survey:

Lezo, A ; Diamanti, A ; Capriati, T...
info:eu-repo/semantics/altIdentifier/wos/WOS:000446656200010. , 2017

Link: http://hdl.handle.net/11..