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Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex.
Thromb Haemost. 2000 Dec;84(6):937-41.
Thromb Haemost. 2000.
PMID: 11154138
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.
Bolz H, et al. Among authors: von brederlow b.
Nat Genet. 2001 Jan;27(1):108-12. doi: 10.1038/83667.
Nat Genet. 2001.
PMID: 11138009
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Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A.
von Brederlow B, et al.
Hum Mutat. 2002 Mar;19(3):268-73. doi: 10.1002/humu.10049.
Hum Mutat. 2002.
PMID: 11857743
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Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family.
Bolz H, Ramírez A, von Brederlow B, Kubisch C.
Bolz H, et al. Among authors: von brederlow b.
Biochim Biophys Acta. 2001 Dec 30;1522(3):221-5. doi: 10.1016/s0167-4781(01)00329-3.
Biochim Biophys Acta. 2001.
PMID: 11779638
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Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE.
von Brederlow B, et al.
Hum Mol Genet. 1995 Feb;4(2):279-84. doi: 10.1093/hmg/4.2.279.
Hum Mol Genet. 1995.
PMID: 7757080
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