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Results: 1-9 |
Results: 9
Infantile systemic hyalinosis in siblings: Clinical report, biochemical and ultrastructural findings, and review of the literature
Authors: Stucki, U Spycher, MA Eich, G Rossi, A Sacher, P Steinmann, B Superti-Furga, A
Citation: U. Stucki et al., Infantile systemic hyalinosis in siblings: Clinical report, biochemical and ultrastructural findings, and review of the literature, AM J MED G, 100(2), 2001, pp. 122-129
Diagnostic and therapeutic impact of whole body positron emission tomography using fluorine-18-fluoro-2-deoxy-D-glucose in children with chronic granulomatous disease
Authors: Gungor, T Engel-Bicik, I Eich, G Willi, UV Nadal, D Hossle, JP Seger, RA Steinert, HC
Citation: T. Gungor et al., Diagnostic and therapeutic impact of whole body positron emission tomography using fluorine-18-fluoro-2-deoxy-D-glucose in children with chronic granulomatous disease, ARCH DIS CH, 85(4), 2001, pp. 341-345
Posttraumatic dural sinus thrombosis in children
Authors: Stiefel, D Eich, G Sacher, P
Citation: D. Stiefel et al., Posttraumatic dural sinus thrombosis in children, EUR J PED S, 10(1), 2000, pp. 41-44
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual
Authors: Sobetzko, D Eich, G Kalff-Suske, M Grzeschik, KH Superti-Furga, A
Citation: D. Sobetzko et al., Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual, AM J MED G, 90(3), 2000, pp. 239-242
Haemorrhagic shock and encephalopathy syndrome: report of two cases with special reference to hypoglycaemia
Authors: Frey, B Haller, R Eich, G Fanconi, S
Citation: B. Frey et al., Haemorrhagic shock and encephalopathy syndrome: report of two cases with special reference to hypoglycaemia, SCHW MED WO, 130(5), 2000, pp. 151-155
Kniest dysplasia: Clinical, pathologic, and molecular findings in a severely affected patient - And review of the literature
Authors: Faber, J Winterpacht, A Zabel, B Eich, G Spycher, MA Briner, J Giunta, C Superti-Furga, A Steinmann, B
Citation: J. Faber et al., Kniest dysplasia: Clinical, pathologic, and molecular findings in a severely affected patient - And review of the literature, PEDIAT PATH, 18(3), 1999, pp. 187-206
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
Authors: Superti-Furga, A Neumann, L Riebel, T Eich, G Steinmann, B Spranger, J Kunze, J
Citation: A. Superti-furga et al., Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation, J MED GENET, 36(8), 1999, pp. 621-624
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia
Authors: Megarbane, A Haddad, FA Haddad-Zebouni, S Achram, M Eich, G Le Merrer, M Superti-Furga, A
Citation: A. Megarbane et al., Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia, CLIN GENET, 56(1), 1999, pp. 71-76
The hydrogen peroxyde radical, HO2 - a potential tracer of interstellar molecular oxygen
Authors: Kaiser, RI Eich, G Gabrysch, A Roessler, K
Citation: Ri. Kaiser et al., The hydrogen peroxyde radical, HO2 - a potential tracer of interstellar molecular oxygen, ASTRON ASTR, 346(1), 1999, pp. 340-344
Risultati: 1-9 |