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European Journal of Pediatrics|February 1, 1995
Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutationM Raghunath, K Mackay, R Dalgleish, et al.
American Journal of Medical Genetics. Part A|March 21, 2008
Holt-Oram syndrome associated with anomalies of the feetL Garavelli, D De Brasi, R Verri, et al.
Nature Genetics|October 15, 1998
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouseM Faiyaz ul Haque, L M King, D Krakow, et al.
The Biochemical Journal|May 1, 1974
Age-related variations in hydroxylation of lysine and proline in collagenM J Barnes, B J Constable, L F Morton, et al.
The Journal of Investigative Dermatology|January 1, 1994
Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosaA König, M Raghunath, B Steinmann, et al.
American Journal of Medical Genetics|August 15, 1993
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicismR Petrella, J G Rabinowitz, B Steinmann, et al.
Helvetica Paediatrica Acta|December 1, 1978
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic casesK Baerlocher, R Gitzelmann, B Steinmann, et al.
Pediatric Research|February 1, 1987
The renal handling of carnitine in patients with selective tubulopathy and with Fanconi syndromeB Steinmann, C Bachmann, J P Colombo, et al.
The Biochemical Journal|December 15, 1995
Biosynthesis of recombinant human pro-alpha 1(III) chains in a baculovirus expression system: production of disulphide-bonded and non-disulphide-bonded species containing full-length triple helicesM Tomita, N Ohkura, M Ito, et al.
Pediatric Research|October 1, 1994
Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopyP Boesiger, R Buchli, D Meier, et al.
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