Clinical, biochemical and molecular characterization of mild (nonclassic) Rhizomelic Chondrodysplasia Punctata

2020 ◽  
Author(s):  
Wedad Fallatah ◽  
Monica Schouten ◽  
Christine Yergeau ◽  
Erminia Di Pietro ◽  
Marc Engelen ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

scholarly journals Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 417-417
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction

scholarly journals Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 387-392 ◽  
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction

Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) rhizomelic chondrodysplasia punctata type 1

2021 ◽  
Vol 132 ◽  
pp. S286
Author(s):  
Wedad Fallatah ◽  
Graeme Nimmo ◽  
Christine Yergeau ◽  
Erminia Di Pietro ◽  
Fabian Dorninger ◽  
...  
Keyword(s):  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

2011 ◽  
Vol 33 (1) ◽  
pp. 189-197 ◽  
Author(s):  
Brandon Itzkovitz ◽  
Sarn Jiralerspong ◽  
Graeme Nimmo ◽  
Melissa Loscalzo ◽  
Dafne D. G. Horovitz ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Novel Mutations ◽  
Rhizomelic Chondrodysplasia Punctata

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

Clinical and molecular characterization of therapy-related myeloid neoplasms after treatment for childhood acute lymphoblastic leukemia

2010 ◽  
Vol 222 (03) ◽  
Author(s):  
P Breithaupt ◽  
B Meissner ◽  
G Cario ◽  
A Moericke ◽  
A Schrauder ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Molecular Characterization ◽  
Lymphoblastic Leukemia ◽  
Childhood Acute Lymphoblastic Leukemia ◽  
Myeloid Neoplasms

Molecular characterization of polyketide synthases from Ginkgo biloba

Planta Medica ◽  
2010 ◽  
Vol 76 (12) ◽  
Author(s):  
F Taura ◽  
T Luetrakul ◽  
Y Shoyama
Keyword(s):  
Molecular Characterization ◽  
Ginkgo Biloba ◽  
Polyketide Synthases

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
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