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R Parini

Showing results (31-40 of 72) with videos related to

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American Journal of Medical Genetics|January 24, 1998
Spherophakia associated with molybdenum cofactor deficiencyR Parini, V Briscioli, U Caruso, et al.
Minerva Anestesiologica|July 7, 2011
Multidetector computed tomography (MDCT) for preoperative airway assessment in children with mucopolysaccharidosesP M Ingelmo, R Parini, M Grimaldi, et al.
Human Molecular Genetics|November 7, 2000
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosisE J Bonten, W F Arts, M Beck, et al.
Pediatrics|August 1, 1993
Nasogastric drip feeding as the only treatment of neonatal maple syrup urine diseaseR Parini, L P Sereni, D C Bagozzi, et al.
Acta Paediatrica (Oslo, Norway : 1992)|December 26, 2006
Enzyme replacement therapy with agalsidase alfa in children with Fabry diseaseU Ramaswami, S Wendt, G Pintos-Morell, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiencyC Cavicchi, M A Donati, E Pasquini, et al.
American Journal of Medical Genetics|April 27, 2002
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean areaS Lucchiari, I Fogh, A Prelle, et al.
Clinical Genetics|August 29, 2013
Intrafamilial phenotypic variability in four families with Anderson-Fabry diseaseM Rigoldi, D Concolino, A Morrone, et al.
The Journal of Pediatrics|April 1, 1985
Clinical pharmacology of netilmicin in preterm and term newborn infantsB Granati, B M Assael, M Chung, et al.
Journal of Inherited Metabolic Disease|January 27, 2005
Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblingsB Giuffrè, R Parini, T Rizzuti, et al.
Pageof 8

Showing results (31-40 of 72) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics|January 24, 1998
Spherophakia associated with molybdenum cofactor deficiencyR Parini, V Briscioli, U Caruso, et al.
Minerva Anestesiologica|July 7, 2011
Multidetector computed tomography (MDCT) for preoperative airway assessment in children with mucopolysaccharidosesP M Ingelmo, R Parini, M Grimaldi, et al.
Human Molecular Genetics|November 7, 2000
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosisE J Bonten, W F Arts, M Beck, et al.
Pediatrics|August 1, 1993
Nasogastric drip feeding as the only treatment of neonatal maple syrup urine diseaseR Parini, L P Sereni, D C Bagozzi, et al.
Acta Paediatrica (Oslo, Norway : 1992)|December 26, 2006
Enzyme replacement therapy with agalsidase alfa in children with Fabry diseaseU Ramaswami, S Wendt, G Pintos-Morell, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiencyC Cavicchi, M A Donati, E Pasquini, et al.
American Journal of Medical Genetics|April 27, 2002
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean areaS Lucchiari, I Fogh, A Prelle, et al.
Clinical Genetics|August 29, 2013
Intrafamilial phenotypic variability in four families with Anderson-Fabry diseaseM Rigoldi, D Concolino, A Morrone, et al.
The Journal of Pediatrics|April 1, 1985
Clinical pharmacology of netilmicin in preterm and term newborn infantsB Granati, B M Assael, M Chung, et al.
Journal of Inherited Metabolic Disease|January 27, 2005
Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblingsB Giuffrè, R Parini, T Rizzuti, et al.
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