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B von Brederlow

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Citations 258
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Recent Articles
1.
Bolz H, Ramirez A, von Brederlow B, Kubisch C
Biochim Biophys Acta . 2002 Jan; 1522(3):221-5. PMID: 11779638
ADAMTS (a disintegrin-like and metalloproteinase domain with thrombospondin type 1 modules) proteins constitute a family of zinc metalloproteinases which target and process extracellular matrix proteins. We cloned and characterized a...
2.
Oldenburg J, von Brederlow B, Fregin A, Rost S, Wolz W, Eberl W, et al.
Thromb Haemost . 2001 Jan; 84(6):937-41. PMID: 11154138
Hereditary combined deficiency of the vitamin K dependent coagulation factors is a rare bleeding disorder. To date, only eleven families have been reported in the literature. The phenotype varies considerably...
3.
Bolz H, von Brederlow B, Ramirez A, Bryda E, Kutsche K, Nothwang H, et al.
Nat Genet . 2001 Jan; 27(1):108-12. PMID: 11138009
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to early onset retinitis pigmentosa (RP). So far,...
4.
von Brederlow B, Hahn A, Koopman W, Ebers G, Bulman D
Hum Mol Genet . 1995 Feb; 4(2):279-84. PMID: 7757080
Acetazolamide responsive hereditary paroxysmal cerebellar ataxia (APCA) is a rare autosomal dominant disorder characterized by attacks of cerebellar ataxia and dysarthria with normal or near normal neurologic function between attacks....