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Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B, Pezeshkpoor B, Banchev A, Fischer R, Zieger B, Scholz U, Rühl H, Kemkes-Matthes B, Schmitt U, Redlich A, Unal S, Laws HJ, Olivieri M, Oldenburg J, Pavlova A. Preisler B, et al. Among authors: pavlova a. J Clin Med. 2021 Jan 18;10(2):347. doi: 10.3390/jcm10020347. J Clin Med. 2021. PMID: 33477601 Free PMC article.
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.
Bartsch I, Sandrock K, Lanza F, Nurden P, Hainmann I, Pavlova A, Greinacher A, Tacke U, Barth M, Busse A, Oldenburg J, Bommer M, Strahm B, Superti-Furga A, Zieger B. Bartsch I, et al. Among authors: pavlova a. Thromb Haemost. 2011 Sep;106(3):475-83. doi: 10.1160/TH11-05-0305. Epub 2011 Jul 28. Thromb Haemost. 2011. PMID: 21800012
372 results