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B Steinmann

Showing results (121-130 of 238) with videos related to

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Pediatrics|August 3, 2001
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemiaS L Rutledge, J Atchison, N U Bosshard, et al.
European Journal of Pediatrics|August 1, 1998
Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantationC P Braegger, D C Belli, G Mentha, et al.
European Journal of Pediatrics|October 1, 1989
Hyperprolinaemia type I and white matter disease: coincidence or causal relationship?M Steinlin, E Boltshauser, B Steinmann, et al.
Journal of Craniofacial Genetics and Developmental Biology|July 1, 1996
Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teethH U Luder, H van Waes, M Raghunath, et al.
European Journal of Pediatrics|November 11, 1998
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literatureR Santer, R Schneppenheim, D Suter, et al.
The Journal of Biological Chemistry|November 25, 1991
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfectaJ R Hawkins, A Superti-Furga, B Steinmann, et al.
Pediatric Research|April 1, 1976
Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblingsA Niederwieser, A Matasović, B Steinmann, et al.
Cardiology|January 21, 2000
Early-onset familial dilatation of the ascending aortaM Beghetti, B Steinmann, D Didier, et al.
Human Molecular Genetics|September 1, 1994
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)D T Bonthron, N Brady, I A Donaldson, et al.
Upsala Journal of Medical Sciences|January 19, 2010
Collagen disordersB Steinmann, S Abe, G R Martin, et al.
Pageof 24

Showing results (121-130 of 238) with videos related to

Sort By:
Pageof 24
Pediatrics|August 3, 2001
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemiaS L Rutledge, J Atchison, N U Bosshard, et al.
European Journal of Pediatrics|August 1, 1998
Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantationC P Braegger, D C Belli, G Mentha, et al.
European Journal of Pediatrics|October 1, 1989
Hyperprolinaemia type I and white matter disease: coincidence or causal relationship?M Steinlin, E Boltshauser, B Steinmann, et al.
Journal of Craniofacial Genetics and Developmental Biology|July 1, 1996
Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teethH U Luder, H van Waes, M Raghunath, et al.
European Journal of Pediatrics|November 11, 1998
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literatureR Santer, R Schneppenheim, D Suter, et al.
The Journal of Biological Chemistry|November 25, 1991
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfectaJ R Hawkins, A Superti-Furga, B Steinmann, et al.
Pediatric Research|April 1, 1976
Hydantoin-5-propionic aciduria in folic acid nondependent formiminoglutamic aciduria observed in two siblingsA Niederwieser, A Matasović, B Steinmann, et al.
Cardiology|January 21, 2000
Early-onset familial dilatation of the ascending aortaM Beghetti, B Steinmann, D Didier, et al.
Human Molecular Genetics|September 1, 1994
Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)D T Bonthron, N Brady, I A Donaldson, et al.
Upsala Journal of Medical Sciences|January 19, 2010
Collagen disordersB Steinmann, S Abe, G R Martin, et al.
Pageof 24