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[Rare diseases, digitization, and the National Action League for People with Rare Diseases (NAMSE)].
Wessel T, Heuing K, Schlangen M, Schnieders B, Algermissen M. Wessel T, et al. Among authors: schnieders b. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022 Nov;65(11):1119-1125. doi: 10.1007/s00103-022-03597-w. Epub 2022 Oct 14. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022. PMID: 36239769 Free PMC article. Review. German.
Report of an international survey of molecular genetic testing laboratories.
McGovern MM, Elles R, Beretta I, Somerville MJ, Hoefler G, Keinanen M, Barton D, Carson N, Dequeker E, Brdicka R, Blazkova A, Aymé S, Schnieders B, Muller CR, Dalen V, Martinez AA, Kristoffersson U, Ozguc M, Mueller H, Boone J, Lubin IM, Sequeiros J, Taruscio D, Williamson B, Mainland L, Yoshikura H, Ronchi E. McGovern MM, et al. Among authors: schnieders b. Community Genet. 2007;10(3):123-31. doi: 10.1159/000101753. Community Genet. 2007. PMID: 17575456
Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome.
Schwab KO, Ensenauer R, Matern D, Uyanik G, Schnieders B, Wanders RA, Lehnert W. Schwab KO, et al. Among authors: schnieders b. Eur J Pediatr. 2003 Feb;162(2):90-5. doi: 10.1007/s00431-002-1035-4. Epub 2003 Jan 9. Eur J Pediatr. 2003. PMID: 12548384
Role of E2F-1 in chemosensitivity.
Banerjee D, Schnieders B, Fu JZ, Adhikari D, Zhao SC, Bertino JR. Banerjee D, et al. Among authors: schnieders b. Cancer Res. 1998 Oct 1;58(19):4292-6. Cancer Res. 1998. PMID: 9766655
38 results