Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation inPLOD2

2004 ◽  
Vol 131A (2) ◽  
pp. 115-120 ◽  
Author(s):  
Russia Ha-Vinh ◽  
Yasemin Alanay ◽  
Ruud A. Bank ◽  
Ana Belinda Campos-Xavier ◽  
Andreas Zankl ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Molecular Characterization ◽  
Recessive Mutation ◽  
Bruck Syndrome

scholarly journals Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

2015 ◽  
Vol 6 (4) ◽  
pp. 164-172 ◽  
Author(s):  
Evelise Brizola ◽  
Eduardo P. Mattos ◽  
Jessica Ferrari ◽  
Patricia O.A. Freire ◽  
Raquel Germer ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Molecular Characterization ◽  
Osteogenesis Imperfecta Type ◽  
Type V

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta

2011 ◽  
Vol 38 (4) ◽  
pp. 149-156 ◽  
Author(s):  
Zhenping Xu ◽  
Yulei Li ◽  
Xiangyang Zhang ◽  
Fanming Zeng ◽  
Mingxiong Yuan ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Molecular Characterization ◽  
Novel Mutations ◽  
Chinese Families

1446: Molecular Characterization of Cyclooxygenase-2 in a Stimulated Prostate Stroma Cells

2006 ◽  
Vol 175 (4S) ◽  
pp. 467-467
Author(s):  
Victor K. Lin ◽  
Shih-Ya Wang ◽  
Claus G. Roehrbom
Keyword(s):  
Molecular Characterization ◽  
Cyclooxygenase 2 ◽  
Prostate Stroma

Molecular characterization of lincRNAs in Down syndrome associated leukemia

2012 ◽  
Vol 224 (03) ◽  
Author(s):  
A Streltsov ◽  
S Emmrich ◽  
F Engeland ◽  
JH Klusmann
Keyword(s):  
Down Syndrome ◽  
Molecular Characterization

Molecular Characterization of Radiation-induced Glioblastoma

2018 ◽  
Author(s):  
MY Deng ◽  
D Sturm ◽  
E Pfaff ◽  
GP Balasubrama ◽  
J Schittenhelm ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Radiation Induced

Clinical and molecular characterization of patients with multiple sulfatase deficiency

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
L Schlotawa ◽  
T Dierks ◽  
K von Figura ◽  
J Gärtner
Keyword(s):  
Molecular Characterization ◽  
Multiple Sulfatase Deficiency
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