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C Borrone

Showing results (81-90 of 89) with videos related to

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Journal of Inherited Metabolic Disease|July 10, 1999
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh diseaseM Di Rocco, U Caruso, I Moroni, et al.
European Journal of Pediatrics|March 1, 1982
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis IIIR Gatti, C Borrone, P Durand, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfectaR Tenni, P Biglino, K Dyne, et al.
Blood|July 15, 1995
Role of busulfan and total body irradiation on growth of prepubertal children receiving bone marrow transplantation and results of treatment with recombinant human growth hormoneG Giorgiani, M Bozzola, F Locatelli, et al.
The New England Journal of Medicine|July 2, 1992
Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphismP Cossu, M Pirastu, A Nucaro, et al.
Nucleic Acids Research|October 25, 1989
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndromeI Nelson, F Degoul, B Obermaier-Kusser, et al.
American Journal of Human Genetics|February 11, 1999
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophyM Seri, R Cusano, P Forabosco, et al.
Genes, Chromosomes & Cancer|January 1, 1996
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomasC Carbonara, L Longa, E Grosso, et al.
Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.
Pageof 9

Showing results (81-90 of 89) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 89 results.
Journal of Inherited Metabolic Disease|July 10, 1999
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh diseaseM Di Rocco, U Caruso, I Moroni, et al.
European Journal of Pediatrics|March 1, 1982
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis IIIR Gatti, C Borrone, P Durand, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfectaR Tenni, P Biglino, K Dyne, et al.
Blood|July 15, 1995
Role of busulfan and total body irradiation on growth of prepubertal children receiving bone marrow transplantation and results of treatment with recombinant human growth hormoneG Giorgiani, M Bozzola, F Locatelli, et al.
The New England Journal of Medicine|July 2, 1992
Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphismP Cossu, M Pirastu, A Nucaro, et al.
Nucleic Acids Research|October 25, 1989
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndromeI Nelson, F Degoul, B Obermaier-Kusser, et al.
American Journal of Human Genetics|February 11, 1999
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophyM Seri, R Cusano, P Forabosco, et al.
Genes, Chromosomes & Cancer|January 1, 1996
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomasC Carbonara, L Longa, E Grosso, et al.
Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.
Pageof 9