scholarly journals A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Yasuharu Nakashima ◽  
Yuma Sakamoto ◽  
Gen Nishimura ◽  
Shiro Ikegawa ◽  
Yukihide Iwamoto
1999 ◽  
Vol 17 (6) ◽  
pp. 836-842 ◽  
Author(s):  
Paula M. Ragan ◽  
Alison M. Badger ◽  
Michael Cook ◽  
Vicki I. Chin ◽  
Maxine Gowen ◽  
...  

1987 ◽  
Vol 84 (9) ◽  
pp. 2803-2807 ◽  
Author(s):  
R. H. Lovell-Badge ◽  
A. Bygrave ◽  
A. Bradley ◽  
E. Robertson ◽  
R. Tilly ◽  
...  

1988 ◽  
Vol 8 (4) ◽  
pp. 277-294 ◽  
Author(s):  
Hyun-Duck Nah ◽  
Barbara J. Rodgers ◽  
William M. Kulyk ◽  
Barbara E. Kream ◽  
Robert A. Kosher ◽  
...  

2000 ◽  
Vol 8 (4) ◽  
pp. 248-257 ◽  
Author(s):  
A.-M.K Säämänen ◽  
H.J Salminen ◽  
P.B Dean ◽  
B De Crombrugghe ◽  
E.I Vuorio ◽  
...  

2008 ◽  
Vol 215 (2) ◽  
pp. 562-573 ◽  
Author(s):  
Haibing Peng ◽  
Lujian Tan ◽  
Makoto Osaki ◽  
Yumei Zhan ◽  
Kosei Ijiri ◽  
...  

The Lancet ◽  
1989 ◽  
Vol 333 (8644) ◽  
pp. 924-927 ◽  
Author(s):  
Aarno Palotie ◽  
Jürg Ott ◽  
Kati Elima ◽  
Kathryn Cheah ◽  
Pirjo Väisänen ◽  
...  

2002 ◽  
Vol 277 (52) ◽  
pp. 50668-50675 ◽  
Author(s):  
Wendong Huang ◽  
Ni Lu ◽  
Heidi Eberspaecher ◽  
Benoit de Crombrugghe

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