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Results:
1-24
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Results: 24
Authors:
Baumgartner, D
Gassner, I
Sperl, W
Salzer-Kuntschik, M
Judmaier, W
Steinmann, B
Citation: D. Baumgartner et al., Calvarial "doughnut lesions": Clinical spectrum of the syndrome, report ona case, and review of the literature, AM J MED G, 99(3), 2001, pp. 238-243
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
Authors:
Gong, YQ
Slee, RB
Fukai, N
Rawadi, G
Roman-Roman, S
Reginato, AM
Wang, HW
Cundy, T
Glorieux, FH
Lev, D
Zacharin, M
Oexle, K
Marcelino, J
Suwairi, W
Heeger, S
Sabatakos, G
Apte, S
Adkins, WN
Allgrove, J
Arslan-Kirchner, M
Batch, JA
Beighton, P
Black, GCM
Boles, RG
Boon, LM
Borrone, C
Brunner, HG
Carle, GF
Dallapiccola, B
De Paepe, A
Floege, B
Halfhide, ML
Hall, B
Hennekam, RC
Hirose, T
Jans, A
Juppner, H
Kim, CA
Keppler-Noreuil, K
Kohlschuetter, A
LaCombe, D
Lambert, M
Lemyre, E
Letteboer, T
Peltonen, L
Ramesar, RS
Romanengo, M
Somer, H
Steichen-Gersdorf, E
Steinmann, B
Sullivan, B
Superti-Furga, A
Swoboda, W
van den Boogaard, MJ
Van Hul, V
Vikkula, M
Votruba, M
Zabel, B
Garcia, T
Baron, R
Olsen, BR
Warman, ML
Citation: Yq. Gong et al., LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development, CELL, 107(4), 2001, pp. 513-523
Authors:
Schlumpf, M
Cotton, B
Conscience, M
Haller, V
Steinmann, B
Lichtensteiger, W
Citation: M. Schlumpf et al., In vitro and in vivo estrogenicity of UV screens, ENVIR H PER, 109(3), 2001, pp. 239-244
Authors:
Rutledge, SL
Atchison, J
Bosshard, NU
Steinmann, B
Citation: Sl. Rutledge et al., Case report: liver glycogen synthase deficiency - A cause of ketotic hypoglycemia, PEDIATRICS, 108(2), 2001, pp. 495-497
Authors:
Zschocke, J
Steinmann, B
Hoffmann, GF
Citation: J. Zschocke et al., Mutation analysis in metabolic disease - change in clinical practice?, EUR J PED, 159, 2000, pp. S169-S169
Authors:
Steinmann, B
Giunta, C
Citation: B. Steinmann et C. Giunta, The devil of the one letter code and the Ehlers-Danlos syndrome: Corrigendum, AM J MED G, 93(4), 2000, pp. 342-342
Authors:
Giunta, C
Steinmann, B
Citation: C. Giunta et B. Steinmann, Compound heterozygosity for a disease-causing G1489D and disease-modifyingG530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?, AM J MED G, 90(1), 2000, pp. 72-79
Authors:
Faber, J
Winterpacht, A
Zabel, B
Gnoinski, W
Schinzel, A
Steinmann, B
Superti-Furga, A
Citation: J. Faber et al., Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiencymutation: implications for genetic counselling, J MED GENET, 37(4), 2000, pp. 318-320
Authors:
Kasten, R
Steinmann, B
Voigtlander, V
Citation: R. Kasten et al., Hereditary prolidase deficiency - one cause of therapy-resistant leg ulcers, HAUTARZT, 51(11), 2000, pp. 846-851
Authors:
Hofmann, M
Steinmann, B
Citation: M. Hofmann et B. Steinmann, RPC AG - Rapid development of rapid prototyping chemicals, CHIMIA, 54(4), 2000, pp. 211-214
Authors:
Wenstrup, RJ
Florer, JB
Willing, MC
Giunta, C
Steinmann, B
Young, F
Susic, M
Cole, WG
Citation: Rj. Wenstrup et al., COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS, AM J HU GEN, 66(6), 2000, pp. 1766-1776
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
Authors:
Steinmann, B
Giunta, C
Citation: B. Steinmann et C. Giunta, Diagnostic work for research purpose should be acknowledged, EURO J SURG, 165(10), 1999, pp. 1003-1003
Authors:
Lam, JT
Martin, MG
Turk, E
Hirayama, BA
Bosshard, NU
Steinmann, B
Wright, EM
Citation: Jt. Lam et al., Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects, BBA-MOL BAS, 1453(2), 1999, pp. 297-303
Authors:
Feliubadalo, L
Bisceglia, L
Font, M
Dello Strologo, L
Beccia, E
Arslan-Kirchner, M
Steinmann, B
Zelante, L
Estivill, X
Zorzano, A
Palacin, M
Gasparini, P
Nunes, V
Citation: L. Feliubadalo et al., Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1, GENOMICS, 60(3), 1999, pp. 362-365
Authors:
Bischoff, H
Freitag, P
Jundt, G
Steinmann, B
Tyndall, A
Theiler, R
Citation: H. Bischoff et al., Type I osteogenesis imperfecta: Diagnostic difficulties, CLIN RHEUMA, 18(1), 1999, pp. 48-51
Authors:
Pearce, S
Steinmann, B
Citation: S. Pearce et B. Steinmann, Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism, CLIN ENDOCR, 50(6), 1999, pp. 691-693
Authors:
Steinmann, B
Citation: B. Steinmann, Molecular pediatrics: Childhood diseases opening the way for medicine, SCHW MED WO, 129(1-2), 1999, pp. 25-29
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
Authors:
Giunta, C
Superti-Furga, A
Spranger, S
Cole, WG
Steinmann, B
Citation: C. Giunta et al., Ehlers-Danlos syndrome type VII: Clinical features and molecular defects, J BONE-AM V, 81A(2), 1999, pp. 225-238
Authors:
Beghetti, M
Steinmann, B
Didier, D
Kalangos, A
Bottani, A
Citation: M. Beghetti et al., Early-onset familial dilatation of the ascending aorta, CARDIOLOGY, 92(1), 1999, pp. 68-70
Authors:
Steinmann, B
Citation: B. Steinmann, Essays on rituals III, HOMME, (148), 1998, pp. 271-275
Authors:
Aboussad, A
Sekarski, N
Cotting, J
Laurini, R
Matthieu, JM
Gitzelmann, R
Bosshard, NU
Steinmann, B
Corboz, A
Payot, M
Citation: A. Aboussad et al., Glycogenosis type IX due to phosphorylase b-kinase deficiency, with involvement of the heart, liver, and skeletal muscle., ANN PEDIAT, 45(10), 1998, pp. 707-712
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