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1 ng the hallmark characteristics of the human Bernard-Soulier syndrome.
2 s associated with the rare bleeding disorder Bernard-Soulier syndrome.
3 r gene Gp1ba recapitulates features of human Bernard-Soulier syndrome.
4 iated with human GP Ibbeta mutations and the Bernard-Soulier syndrome.
5 d with platelets from the mouse model of the Bernard-Soulier syndrome.
6 xplain the thrombocytopenia in patients with Bernard-Soulier syndrome, a bleeding disorder caused by
7 hy defects in GP V have not been observed in Bernard-Soulier syndrome, a bleeding disorder caused by
8 coprotein (GP) Ib-IX receptor results in the Bernard-Soulier syndrome and is characterized by severe
12 s of the GPIb-IX-V complex is pathogenic for Bernard-soulier Syndrome (BSS), which is characterized b
14 cribed compound heterozygous defect produces Bernard-Soulier syndrome by a combination of synthesis o
16 the characterization of a mouse model of the Bernard-Soulier syndrome generated by a targeted disrupt
17 molecular genetic and biosynthetic basis of Bernard-Soulier syndrome in a severely affected white wo
21 ptor were generated and bred into the murine Bernard-Soulier syndrome-producing animals devoid of mou
24 Ibalpha expression and platelet adhesion in Bernard-Soulier syndrome, the deficiency disorder of the
26 e we describe the molecular basis of a novel Bernard-Soulier syndrome variant in a patient in whom GP
27 We describe the molecular basis of a novel Bernard-Soulier syndrome variant in two siblings in whom
28 X mutations described in three siblings with Bernard-Soulier syndrome, we introduced each mutation in
29 d platelets and platelets from patients with Bernard-Soulier syndrome, which are deficient in GPIbalp
30 ha ectodomain, platelets from a patient with Bernard-Soulier syndrome with GPIb-IX-V deficiency, and