AAAAAA

   
Results: 1-20 |
Results: 20
A molecular approach to the classification of von Willebrand disease
Authors: Schneppenheim, R Budde, U Ruggeri, ZM
Citation: R. Schneppenheim et al., A molecular approach to the classification of von Willebrand disease, BEST P R C, 14(2), 2001, pp. 281-298
Quantification and facilitated comparison of von Willebrand factor multimer patterns by densitometry
Authors: Studt, JD Budde, U Schneppenheim, R Eisert, R Prondzinski, MV Ganser, A Barthels, M
Citation: Jd. Studt et al., Quantification and facilitated comparison of von Willebrand factor multimer patterns by densitometry, AM J CLIN P, 116(4), 2001, pp. 567-574
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands
Authors: Santer, R Kinner, M Steuerwald, U Kjaergaard, S Skovby, F Simonsen, H Shaiu, WL Chen, YT Schneppenheim, R Schaub, J
Citation: R. Santer et al., Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands, EUR J HUM G, 9(5), 2001, pp. 388-391
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome
Authors: Santer, R Kinner, M Passarge, M Superti-Furga, A Mayatepek, E Meissner, T Schneppenheim, R Schaub, J
Citation: R. Santer et al., Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome, HUM GENET, 108(1), 2001, pp. 66-71
Successful treatment of Pseudomonas aeruginosa respiratory tract infectionwith a sugar solution - a case report on a lectin based therapeutic principle
Authors: von Bismarck, P Schneppenheim, R Schumacher, U
Citation: P. Von Bismarck et al., Successful treatment of Pseudomonas aeruginosa respiratory tract infectionwith a sugar solution - a case report on a lectin based therapeutic principle, KLIN PADIAT, 213(5), 2001, pp. 285-287
Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene
Authors: Rischewski, J Schneppenheim, R
Citation: J. Rischewski et R. Schneppenheim, Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene, J BIOCH BIO, 47(1-2), 2001, pp. 53-64
Familial Williams-Beuren syndrome showing varying clinical expression
Authors: Pankau, R Siebert, R Kautza, M Schneppenheim, R Gosch, A Wessel, A Partsch, CJ
Citation: R. Pankau et al., Familial Williams-Beuren syndrome showing varying clinical expression, AM J MED G, 98(4), 2001, pp. 324-329
Denaturing HPLC for identification of clonal T-cell receptor gamma rearrangements in newly diagnosed acute lymphoblastic leukemia
Authors: Stadt, UZ Rischewski, J Schneppenheim, R Kabisch, H
Citation: Uz. Stadt et al., Denaturing HPLC for identification of clonal T-cell receptor gamma rearrangements in newly diagnosed acute lymphoblastic leukemia, CLIN CHEM, 47(11), 2001, pp. 2003-2011
Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease
Authors: Schneppenheim, R Budde, U Obser, T Brassard, J Mainusch, K Ruggeri, ZM Schneppenheim, S Schwaab, R Oldenburg, J
Citation: R. Schneppenheim et al., Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease, BLOOD, 97(7), 2001, pp. 2059-2066
The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population
Authors: Rischewski, J von Bismarck, P Kabisch, H Janka-Schaub, G Obser, T Schneppenheim, R
Citation: J. Rischewski et al., The common deletion 657del5 in the Nibrin gene is not a major risk factor for B or T cell non-Hodgkin lymphoma in a pediatric population, LEUKEMIA, 14(8), 2000, pp. 1528-1529
An additional unique candidate mutation (G2470A; M7401) in the original families with von Willebrand disease type 2 M vicenza and the G3864A (R1205H)mutation
Authors: Castaman, G Missiaglia, E Federici, AB Schneppenheim, R Rodeghiero, F
Citation: G. Castaman et al., An additional unique candidate mutation (G2470A; M7401) in the original families with von Willebrand disease type 2 M vicenza and the G3864A (R1205H)mutation, THROMB HAEM, 84(2), 2000, pp. 350-351
Von Willebrand disease type 2M "Vicenza" in Italian and German patients: Identification of the first candidate mutation (G3864A; R1205H) in 8 families
Authors: Schneppenheim, R Federici, AB Budde, U Castaman, G Drewke, E Krey, S Mannucci, PM Riesen, G Rodeghiero, F Zieger, B Zimmermann, R
Citation: R. Schneppenheim et al., Von Willebrand disease type 2M "Vicenza" in Italian and German patients: Identification of the first candidate mutation (G3864A; R1205H) in 8 families, THROMB HAEM, 83(1), 2000, pp. 136-140
A heterozygous frameshift mutation in the Fanconi Anemia C gene in familiary T-ALL and secondary malignancy
Authors: Rischewski, JR Clausen, H Leber, V Niemeyer, C Ritter, J Schindler, D Schneppenheim, R
Citation: Jr. Rischewski et al., A heterozygous frameshift mutation in the Fanconi Anemia C gene in familiary T-ALL and secondary malignancy, KLIN PADIAT, 212(4), 2000, pp. 174-176
Paraneoplastic cerebellar degeneration in pediatric Hodgkin disease
Authors: Hahn, A Claviez, A Brinkmann, G Altermatt, HJ Schneppenheim, R Stephani, U
Citation: A. Hahn et al., Paraneoplastic cerebellar degeneration in pediatric Hodgkin disease, NEUROPEDIAT, 31(1), 2000, pp. 42-44
Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients
Authors: Pankau, R Partsch, CJ Gosch, A Siebert, R Schneider, M Schneppenheim, R Winter, M Wessel, A
Citation: R. Pankau et al., Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients, AM J MED G, 91(4), 2000, pp. 322-324
Hereditary fructose intolerance and alpha(1) antitrypsin deficiency
Authors: Hillebrand, G Schneppenheim, R Oldigs, HD Santer, R
Citation: G. Hillebrand et al., Hereditary fructose intolerance and alpha(1) antitrypsin deficiency, ARCH DIS CH, 83(1), 2000, pp. 72-73
A 2-year-old boy with recurrent severe bleeding: von Willebrand type 2B and ITP or von Willebrand type 2B alone?
Authors: Rauch, R Budde, U Schneppenheim, R Ries, M Girisch, M Klinge, J
Citation: R. Rauch et al., A 2-year-old boy with recurrent severe bleeding: von Willebrand type 2B and ITP or von Willebrand type 2B alone?, EUR J PED, 158, 1999, pp. S171-S173
Heterocygous APC-resistance in a young infant with a thrombus in the pulmonary artery
Authors: Krienke, L Hofbeck, M Schneppenheim, R Ries, M Singer, H Segerer, H
Citation: L. Krienke et al., Heterocygous APC-resistance in a young infant with a thrombus in the pulmonary artery, MONATS KIND, 147(3), 1999, pp. 275-278
Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome
Authors: Partsch, CJ Dreyer, G Gosch, A Winter, M Schneppenheim, R Wessel, A Pankau, R
Citation: Cj. Partsch et al., Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome, J PEDIAT, 134(1), 1999, pp. 82-89
Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus
Authors: Jonat, S Santer, R Schneppenheim, R Obser, T Eggert, P
Citation: S. Jonat et al., Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus, ARCH DIS CH, 81(1), 1999, pp. 57-59
Risultati: 1-20 |