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Item hits:
Issue Date
Title
Author(s)
1-Nov-2010
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
Piranit N. Kantaputra
;
Stefan Mundlos
;
Warissara Sripathomsawat
1-Jul-2010
Corrigendum to obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 duplication) (American Journal of Medical Genetics Part A (2009) 149, 4, (833-834))
Mieke M. Van Haelst
;
Rubin Wang
;
Piranit N. Kantaputra
;
Rodger Palmer
;
Philip Beales
1-Dec-2010
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
Piranit N. Kantaputra
;
Eva Klopocki
;
Bianca P. Hennig
;
Verayuth Praphanphoj
;
Cédric Le Caignec
;
Bertrand Isidor
;
Mei L. Kwee
;
Deborah J. Shears
;
Stefan Mundlos
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Author
2
Stefan Mundlos
1
Bertrand Isidor
1
Bianca P. Hennig
1
Cédric Le Caignec
1
Deborah J. Shears
1
Eva Klopocki
1
Mei L. Kwee
1
Mieke M. Van Haelst
1
Philip Beales
1
Rodger Palmer
.
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